Congenital abnormalities by Erum Khowaja


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Erum khowaja (RN RM)

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Congenital abnormalities by Erum Khowaja

  2. 2. 1 Define congenital abnormalities Congenital 2 Describe causes of congenital abnormalitiesabnormalitie Describe congenital s 3 abnormalities related to GI, Respiratory, cardiac, CNS, muscoskeletal, skin, genitourinary. 4. Describe their causes and treatment
  3. 3. DEFINITION The word "congenital" means "at birth." "Anomaly" comes from the Greek word "anomalos" meaning "uneven" or "irregular.“ (Something that is unusual or different at birth. ) A congenital abnormality is any defect in form, structure or function. (Myles)
  4. 4. 1. Chromosomal abnormalities Numerical abnormalities Structural abnormalities 1. Deletion Sex 2. Duplication Autosomes chromosomes 3. Inversion 4. Translocation TurnerDown syndrome Congenital syndrome abnormalities (if unbalanced)
  5. 5. 2. Single gene defect (Mendelian inheritance)Autosomal dominant Autosomal recessive x_-linked Congenital Duchenne muscular spherocytosis Cystic fibrosis dystrophy
  6. 6. 3. Mitochondrial DNA disorders 4. Multifactorial diseases DM HTN Spina bifida 5. Teratogens
  7. 7. These include..-Gastroschisis-Atresias-Exomphalos
  8. 8. Gastroschisis In the womb, fetal intestines develop outside of the abdomen for a brief time. In normal cases, the intestines return to the abdominal cavity,and the babys abdomen closes before birth.
  9. 9. GASTROSCHISIS Gastroschisis is an abdominal-wall defect that occurs on the side of the umbilical cord (umbilicus).The baby is born with intestines protruding through this defect, and no protective sac is present. Gastroschisis is rarely associated with other birth defects. Gastroschisis is a life-threatening defect, requiring immediate intervention.
  10. 10. Before Operation Artrificial Sac
  11. 11. Post Operation The infant is cared for post-operatively in aneonatal intensive-care unit. He is placed in anisolette (incubator) to keep warm and avoid infectionOxygen is provided, often through mechanicalventilation. Intravenous fluids, antibiotics, andpain medications are also given. A nasogastric tubeis inserted to keep the stomach emptied of gastricsecretions. Feedings through the nasogastric tubebegin as soon as bowel function resumes.
  12. 12. These feedings are approached very slowly, andoften infants are reluctant to eat. They may needfeeding therapy and lots of encouragement.
  13. 13.  It is a defect in which the bowel or other viscera protrude through the umbilicus. (Myles)
  14. 14. Exomphalos is a weakness of the baby‘s abdominalwall where the umbilical cord joins it. This weaknessallows the abdominal contents, mainly the bowel andthe liver to protrude outside the abdominal cavitywhere they are contained in a loose sac thatsurrounds the umbilical cord.
  15. 15. . An infant with exomphalos (omphalocoele) has no abdominal wall muscle around the base of the umbilical cord.. The normal abdominal wall is replaced by a thin membrane through which the bowel may be seen. The covering membrane may burst at delivery. After birth the cord should be clamped well away from the exomphalos. The abnormality should be covered with sterile gauze or plastic wrapping. Whether the exomphalos is big or small, all these infants must be transferred urgently to a level 2 or 3 hospital for management.
  16. 16.  It may b defined as a congenital absence or abnormal narrowing of a body opening. (medical dictionary) It can affect different sites in the GI tract. oesophageal duodenal small bowel colonic anorectal.
  17. 17.  Oesophageal atresia is an obstruction of the oesophagus due to a section of the oesophagus which is missing. It is usually associated with a connection (fistula) between the lower oesophagus and the bronchi of the lungs. Polyhydramnios is almost always present during pregnancy as the fetus cannot swallow. After birth these infants also cannot swallow as the oesophagus ends in a blind pouch. The feed, which cannot be swallowed, is inhaled into the lungs. Gastric acid passes from the stomach into the bronchi, via a fistula, especially when the infants lie down. Both inhaled feeds and the reflux of gastric acid result in respiratory distress.
  18. 18.  Do not feed any infant that you suspect of having an oesophageal atresia. The diagnosis is confirmed by the inability to pass a nasogastric tube. Whenever polyhydramnios is diagnosed, a nasogastric tube must be passed at birth to exclude oesophageal atresia before the first feed is given. Polyhydramnios always suggests oesophageal Atresia
  19. 19.  Duodenal atresia is an obstruction of the duodenum. Polyhydramnios may have been present and the amniotic fluid may also be bile stained due to the fetus vomiting. Soon after delivery the infant starts vomiting. The vomit is often bile stained The diagnosis is easily confirmed by an abdominal X-ray that shows 2 bubbles of air only in the bowel. These infants must be kept nil per mouth, the stomach should be emptied via a nasogastric tube.
  20. 20.  Imperforate anus is a defect that is present from birth (congenital) in which the opening to the anus is missing or blocked.
  21. 21.  The rectum may end in a blind pouch that does not connect with the colon. The rectum may have openings to the urethra, bladder, base of the penis or scrotum in boys, or vagina in girls. There may be narrowing (stenosis) of the anus or no anus. The problem is caused by abnormal development of the fetus. Many forms of imperforate anus occur with other birth defects.
  22. 22.  Anal opening very near the vagina opening in girls. Baby does not pass first stool within 24 - 48 hours after birth. Missing or moved opening to the anus. Stool passes out of the vagina, base of penis, scrotum, or urethra. Swollen belly area.
  23. 23.  A doctor can diagnose this condition during a physical exam. Imaging tests may be recommended. TREATMENT The infant should be checked for other problems, especially those affecting the genitals, urinary tract, and spine. Surgery to correct the defect is needed. If the rectum connects with other organs, these organs will also need to be repaired. A temporary colostomy (connecting the end of the large intestine to the abdomen wall so that stool can be collected in a bag) is often needed.
  25. 25.  A volvulus is a bowel obstruction with a loop of bowel that has abnormally twisted on itself. SINGS AND SYMPTOMS….Bowel obstruction, manifested as abdominal distension and vomiting.….Ischemia (loss of blood flow) to the affected portion of intestine.….severe pain and progressive injury to the intestinal wall, with accumulation of gas and fluid in the portion of the bowel obstructed. TREATMENT  Sigmoidoscopy  Laparotomy
  26. 26.  In meconium ileus the meconium is particularly viscous and causes intestinal obstruction. Symptoms include emesis that may be bilious, abdominal distention, and failure to pass meconium. Diagnosis is based on clinical presentation and x-rays. Treatment is enemas with dilute contrast under fluoroscopy and surgery if enemas fail.
  27. 27.  Hirschsprungs disease is a blockage of the large intestine due to improper muscle movement in the bowel. It is a congenital condition. CAUSES: Muscle contractions in the gut help digested materials move through the intestine. This is called peristalsis. Nerves in between the muscle layers trigger the contractions. In Hirschsprungs disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage, causing the bowel and abdomen to become swollen. Hirschsprungs disease is sometimes associated with other inherited or congenital conditions, such as Down syndrome.
  28. 28. Symptoms that may be present in newborns and infants include: Difficulty with bowel movements Failure to pass meconium shortly after birth Failure to pass a first stool within 24 - 48 hours after birth Infrequent but explosive stools Jaundice Poor feeding Poor weight gain Vomiting Watery diarrhea (in the newborn) Symptoms in older children: Constipation that gradually gets worse Fecal impaction Malnutrition Slow growth Swollen belly
  29. 29.  During a physical examination, the doctor may be able to feel loops of bowel in the swollen belly. A rectal examination may reveal a loss of muscle tone in the rectal muscles. Tests used to help diagnose Hirschsprungs disease may include: Abdominal x-ray Anal manometry (a balloon is inflated in the rectum to measure pressure in the area) Barium enema Rectal biopsy
  30. 30.  Colostomy is usually performed in the sigmoid colon at a site identified intraoperatively (by frozen section pathology) as containing ganglion cells. A variety of subsequent corrective operations are carried out at approximately 1 year of age, although the recent trend is to perform this as a one stage procedure in the neonatal period. All procedures have in common the aim of bringing innervated bowel to, or close to the anal margin with minimal disruption of neural anatomy.
  31. 31. CLEFT LIPThe congenital deformity of a cleft inthe upper lip, on one or both sides ofthe midline.CLEFT PALATEA fissure in the midline of thepalate due to failure of the twosides to fuse in embryonicdevelopment. It may beaccompanied by a cleft lip anddisturbance of tooth formation .
  32. 32. Unilateral Unilateral complete Bilateral completeincomplete Incomplete Unilateral cleft palate complete lip and Bilateral palate complete
  33. 33.  Diagnosed until the soft tissues of the fetal face can be clearly visualized sonographically (13 to 14 weeks). The majority of infants with cleft lip also have palatal involvement:
  34. 34. MANAGEMENTCleft lip repair. The edges of the cleft between the lip and nose are cut (A and B). The bottom of the nostril is formed with suture (C). The upper part of the lip tissue is closed (D), and the stitches are extended down to close the opening entirely (E).
  35. 35.  Diaphragmatic Hernia Choanal Atresia Laryngeal Stridor
  36. 36. A diaphragmatic hernia isa birth defect in whichthere is an abnormalopening in thediaphragm, the musclethat helps you breathe.The opening allows partof the organs from thebelly(stomach, spleen, liver, and intestines) to go upinto the chest cavity nearthe lungs.
  37. 37.  Diaphragmatic hernia is caused by the improper joining of structures during fetal development. As a result, the abdominal organs such as the stomach, small intestine, spleen, part of the liver, and the kidney appear in the chest cavity. The lung tissue on the affected side is thus not allowed to completely develop. Most affect the left side.
  38. 38.  Severe breathing difficulty Bluish colored skin due to lack of oxygen Rapid breathing (tachypnea) Fast heart rate (tachycardia) DIAGNOSIS The pregnant mother may have excessive amounts of amniotic fluid. Fetal ultrasound may show abdominal contents in the chest cavity. Examination of the infant shows: Irregular chest movements Absent breath sounds on affected side Bowel sounds heard in the chest Abdomen feels less full on examination by touch (palpation) A chest x-ray may show abdominal organs in chest cavity.
  39. 39. 1The chest cavity includesthe heart and lungs. Theabdominal cavityincludes the liver, thestomach, and the smalland large intestines. Thetwo regions areseparated by thediaphragm, the largedome-shaped muscle.
  40. 40. 2When the diaphragm develops with a hole init, the abdominal organs can pass into thechest cavity. The lung tissue on the affectedside is compressed, fails to grow normally,and is unable to expand after birth. As thechild begins to breathe, cry, and swallow, airenters the intestines that are protruding intothe chest. The increasing size of the intestinesputs pressure on the other side of the chest,lung, and heart and can quickly cause a life-threatening situation.The indications for a diaphragmatic herniarepair include:1.chest X-rays showing diaphragmatic hernia2.severe breathing difficulty (respiratory3.distress) shortly after birth4.prenatal ultrasound often identifies adiaphragmatic hernia
  41. 41. 3 4An incision is made in the upperabdomen, under the ribs. The The hole in the diaphragm is repairedabdominal organs are gently pulled and the incision is stitched closed. Adown through the opening in the tube is placed in the chest to allow air,diaphragm and positioned into the blood, and fluid to drain so the lungabdominal cavity. can re-expand
  42. 42. 5 The lung tissue may be underdeveloped on the affected side, and the outcome depends upon the development of the lung tissue. Infants who survive may have some long- term lung disease.
  43. 43.  Choanal atresia describes a unilateral or bilateral narrowing of the nasal passage(s) with a web of tissue or bone occluding the nasopharynx. (Myles)  SYMPTOMS Newborns generally prefer to breathe through their nose. Typically, infants only mouth breathe when they cry. Babies with choanal atresia have difficulty breathing unless they are crying Chest retracts crying Difficulty Cyanosis (bluish discoloration) Inability to nurse and breathe at same time Inability to pass a catheter through each side of the nose into the throat Persistent one-sided nasal blockage or discharge
  44. 44.  The immediate concern is to resuscitate the baby if necessary. An airway may need to be placed so that the infant can breathe. In some cases, intubation or tracheostomy may be needed. An infant can learn to mouth breathe, which can delay the need for immediate surgery. Surgery to remove the obstruction cures the problem. Surgery may be delayed if the infant can tolerate mouth breathing. The surgery may be done through the nose (transnasal) or through the mouth (transpalatal).
  45. 45.  Laryngomalacia (also called congenital laryngeal stridor) results from a congenital (present at birth) anomaly of the larynx (voice box). A weakness in the structures in the larynx, can cause stridor. Stridor is a high-pitched sound that is heard best when the child breaths in (inspiration).  CAUSE Laryngomalacia is a defect that is present at birth. During fetal development, the structures in the larynx may not fully develop. As a result, there is a weakness in these structures at birth, causing them to collapse during breathing
  46. 46.  In most cases, laryngomalacia is a harmless condition that resolves on its own, without medical intervention. The condition usually improves by the time the infant is 18 months old, but Each childs case is unique.  The most helpful way to determine if your childs laryngomalacia is causing significant problems is: your baby requires frequent breaks while feeding your baby is having difficulty gaining weight Your child should be seen by an ENT if these are present. your child has significant retractions (chest sucking in) breathing problems
  47. 47.  A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of major birth defect. A babys heart begins to develop shortly after conception. During development, structural defects can occur. These defects can involve the walls of the heart, the valves of the heart and the arteries and veins near the heart. Congenital heart defects can disrupt the normal flow of blood through the heart. The blood flow can Slow down Go in the wrong direction or to the wrong place Be blocked completely
  48. 48.  Chromosomal and genetic factors Teratogens
  49. 49.  PRENATAL DETECTION: Detailed ultrasound  POSTNATAL RECOGNITION: Clinically babies with cardiac anomalies can be divided into two groups1.Central Cyanosis2.Acyanotic Cardiac Defects
  50. 50.  Defects included in this group are:1. Transportion of the great arteries2. Pulmonary atresia3. Tetra logy of fallot4. Tricuspid atresia5. Total anomalous pulmonary venous drainage6. Univentricular/complex heart
  51. 51.  "transposed" literally means "swapped― (exchanged or substitute) A congenital abnormality of the heart in which the aorta arises from the right ventricle and the pulmonary artery from the left ventricle.  (Myles) In TGA the oxygenated blood is circulated back into the systemic circuit. Life is impossible unless there is an additional abnormality, such as septal defect, that permits the mixing of blood.
  52. 52. Factors in the mother that may increase the risk of this condition include: Age over 40 Alcoholism Diabetes Poor nutrition during pregnancy (prenatal nutrition) Rubella or other viral illness during pregnancy
  53. 53.  Blueness of the skin Clubbing of the fingers or toes Poor feeding Shortness of breath
  54. 54.  The health care provider may detect a heart murmur while listening to the chest with a stethoscope. The babys mouth and skin will be a blue color. Tests often include the following: Cardiac catheterization Chest x-ray ECG Echocardiogram (if done before birth, it is called a fetal echocardiogram) Pulse oximetry (to check blood oxygen level)
  55. 55.  The baby will immediately receive a medicine called prostaglandin through an IV (intravenous line). This medicine helps keep a blood vessel called the ductus arteriosus open, allowing some mixing of the two blood circulations. A procedure using a long, thin flexible tube (balloon atrial septostomy) may be needed to create a large hole in the atrial septum to allow blood to mix. A surgery called an arterial switch procedure is used to permanently correct the problem within the babys first week of life. This surgery switches the great arteries back to the normal position and keeps the coronary arteries attached to the aorta.
  56. 56.  Women who plan to become pregnant should be immunized against rubella if they are not already immune. Eating well, avoiding alcohol, and controlling diabetes both before and during pregnancy may be helpful.
  57. 57.  Pulmonary atresia is a form of heart disease that occurs from birth in which the pulmonary valve does not form properly. (The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs.)  SYMPTOMS Symptoms usually occur in the first few hours of life, although it may take up to a few days. Bluish colored skin (cyanosis) Fast breathing Fatigue Poor eating habits (babies may get tired while nursing or sweat during feedings) Shortness of breath
  58. 58.  prostaglandin E1 is usually used to help the blood move (circulate) into the lungs. This medicine keeps a blood vessel open between the pulmonary artery and aorta. Palliative blalock shunt
  59. 59.  It usually occurs with a ventricular septal defect or an atrial septal defect, or both, allowing mixing of the circulation. Potentially more distressing for parents are the defects that do not initially present with marked cyanosis. These babies may for a long time be considered to be healthy.
  60. 60. Tetralogy of Fallot (TOF) is acongenital heart defectwhich is classicallyunderstood to involve fouranatomical abnormalities(although only three ofthem are always present).In this condition there is apulmonary outflow tractobstruction, a ventricularseptal defect, rightventricular hypertrophy andan overriding aorta.
  61. 61. 1. Persistant 2.Ventricular ductus or atrial arteriosus septal (arterial defects duct) 3. Coarctation of the aorta 5. 4.Aotric Hypoplastic stenosis left heart syndrome
  62. 62.  Patent ductus arteriosus (PDA) is a congenital disorder in the heart wherein a neonates ductus arteriosus fails to close after birth. Early symptoms are uncommon, but in the first year of life include increased work of breathing and poor weight gain. With age, the PDA may lead to congestive heart failure if left uncorrected.
  63. 63.  A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. Ventricular septal defect is usually symptomless at birth. It usually manifests a few weeks after birth. Most cases do not need treatment and heal at the first years of life. Treatment is either conservative or surgical. Smaller congenital VSDs often close on their own, as the heart grows, and in such cases may be treated conservatively.
  64. 64.  Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts. In mild cases, children may show no signs or symptoms at first and their condition may not be diagnosed until later in life. Some children born with coarctation of the aorta have other heart defects, too, such as aortic stenosis, ventricular septal defect, patent ductus arteriosus or mitral valve abnormalities. Coarctation is about twice as common in boys as it is in girls. It‘s common in girls who have Turner syndrome. Therapy/Treatment is conservative if asymptomatic, but may require surgical resection of the narrow segment if there is arterial hypertension.
  65. 65.  Aortic valve stenosis (AS) is a disease of the heart valves in which the opening of the aortic valve is narrowed. Treatment is generally not necessary in people without symptoms. In some cases, echocardiography is performed every 1–2 years to monitor the progression.
  66. 66. Hypo plastic left heartsyndrome (also knownas HLHS), is a rarecongenital heartdefect in which theleft ventricle of theheart is severelyunderdeveloped. Infant with cyanosis due to hypo plastic left heart syndrome
  67. 67. Ingestion of folic acid supplements prior toconception and during the early stages ofpregnancy has helped prevent such abnormalities.If patient do not take folic acid in early stagesthey end up with ―. Termination Of Pregnancy.‖The abnormalities include:• Anencephaly• Spina bifida• Hydrocephalus• Microcephaly
  68. 68.  Anencephaly:-The absence of the forebrain and vault of the skull. It is the condition that is incompatible with sustained life but occassionally such a baby is born alive. Management:-The Midwife should wrap the baby carefully before showing the baby to the mother.It is recognized that seeing and holding the baby will facilitate the grieving process.
  69. 69. Spina bifida Spina Bifida is failure of the vertebral column. There is no skin covering the defect, which allows protrusion of the meninges.
  70. 70.  Long Term EffectsThe long term effects are; loss of sensation, paralysis, mental retardation, permanent loss of bowel and bladder control, seizures and weakness.
  71. 71.  Curing and Care:- Often times surgery is performed within twenty-four to forty-eight hours of birth to close any openings in the child‘s lower back and reconstruct the spine and other tissues in the area. Problems with feet and legs may also be deal with surgically. There is fluid in the child‘s brain it can be drained. Bladder and bowel function can be regulated, by catheterization. Mental health and physical therapy experts can also help with learning disabilities, physical therapy, and emotional adjustments.
  72. 72.  HydrocephalusThis condition arises from a blockage in the circulation and absorption of cerebrospinal fluid, which is produced from the choroid plexuses within the lateral ventricles of the brain. The large lateral ventricles increase in size and eventually, compress the surrounding brain tissues. Sign And Symptoms Large tense anterior fontanelle Splayed skull suture Inappropriate increase in occipito frontol circumference Sun setting appearance to the eye Irritability or abnormal movements.
  73. 73.  MicrocephalyAbnormal smallness of the head in relation to the size of the rest of the body. A congenital condition in which the brain is not fully developed. ORThe occipitofrontal circumference is more than two standard deviations below normal for gestational age, the disproportionally small head. Causes Intrauterine infectione.g.Rubella. Alcohol syndrome. Some trisomic disorders,That is chromosomal defecte.g.Down syndrome.
  74. 74.  Sign and symptomsDepending on the severity of the accompanying syndrome, children with microcephaly may have: mental retardation delayed motor functions and speech facial distortions Dwarfism or short stature Hyperactivity Seizures difficulties with coordination and balance other brain or neurological abnormalities.
  75. 75.  PolydactylyMore than the normal number of fingers or toes. From the Greek "polys" (many) + "dactylos" (finger) = many fingers or, medically, too many fingers. Polydactyly is the opposite of oligodactyly (too few fingers or toes). ( SyndactylyA condition in which fingers or toes are partially joined together. Syndactyly can involve the bones or just the skin. With partial syndactyly, the connection extends from the base only partway up the involved digits. (
  76. 76.  MANAGEMENT Polydactyly Can be corrected surgically to improve appearance and functioning Usually done at 1 year of age so skeletal development is complete and accurate anatomic assessment can be done May require reconstruction of any associated abnormalities in remaining digit Cast and soft dressing may be used until healed Syndactyly Treatment aimed at maintaining and improving function with cosmetic benefits Involves surgery and may require skin graft from groin area. Surgery usually done after one year and may be delayed as late as 18-24 months. Whether or not any surgical division needs to be carried out depends on the degree of fusion.
  77. 77.  Limb reduction anomaly Limb reduction anomalies is a condition in which a baby is born with a limb deficit. ORA birth defect where all or part of a limb is absent. Sign and symptoms Underdeveloped limb bones Partial absence of limb Complete absence of limb Short limbs Short digits Absent digits Partially absent digits Malformed limbs Bowed limbs.
  78. 78.  Causes:-
  79. 79.  Talipes―Deformity is an ankle in a state of insufficient dorsiflexion to perform normal gait.‖ ( OR―Talipes equinovarus is the descriptive term for a deformity of the foot where the ankle is bent downwards (planter flexed) and the front part of the turned inwards (inverted).‖
  80. 80. ―Talipes calcaneovalgus describes the opposite position where the foot id dorsiflexed and everted.‖ Causes The causes of talipes is the abnormal position of the feet and limited space in the womb during fetal development, which can result in malformed tendons, muscles and bones. the lack of amniotic fluid in the sac surrounding the fetus, or oligohydramnios, can increase pressure on the feet, leading to talipes as well. TreatmentTreatment for talipes should commence immediately after birth. The goal is to restore the feet to their normal position to enable proper function as well as eliminate pain and deformity. The treatments available are: Serial plaster casting and splinting Surgery.
  81. 81.  Developmental hip dysplasia:-Hip dysplasia is the medical name used to describe a problem with formation of the hip joint in children. The location of the problem can be either the ball of the hip joint (femoral head), the socket of the hip joint (the acetabulum), or both. Causes Breech presentation Primigravida Oligohydramnios It is more in girls than boys. Symptoms Some babies born with a dislocated hip will show no outward signs: Legs of different lengths Uneven skin folds on the thigh Less mobility or flexibility on one side Limping, toe walking, or a waddling, duck-like gait .
  82. 82.  Treatment Non surgical treatment Treatment methods depend on the childs age. Newborns Newborns are placed in a Pavlik harness for 1 to 2 months to treat DDH. Newborns are placed in a Pavlik harness for 1 to 2 months to treat DDH. The baby is placed in a soft positioning device, a Pavlik harness, for 1 to 2 months to keep the thighbone in the socket. This will help tighten the ligaments around the hip joint and promote normal hip socket formation. 1 to 6 months The babys thighbone is repositioned in the socket using a harness or similar device. The method is usually successful. But if it is not, the doctor may have to anesthetize the baby and move the thighbone into proper position, and then put the baby into a body cast (spica). Surgical treatmentCan be done under anesthesia. Open surgery is sometimes necessary. Afterwards, the child is placed into a body cast (spica) to maintain the hip position.
  83. 83.  Achondroplasia―An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism.‖ Symptoms a form of dwarfism short arms, short legs, and an enlarged head. Obesity is one of the most common symptoms of achondroplasia. Causes The causes of dwarfism are quite variable, although most are genetic. Dwarfism is not necessarily inherited, often arising from spontaneous mutations. Metabolic disorders can also lead to dwarfism. If people cannot absorb nutrients, this leads to dwarfism as a result of malnutrition.
  84. 84.  Management Achondroplasia treatment does not include the use of human growth hormone to increase height. This kind of hormone therapy is considered viable only in cases of proportionate dwarfism, in which the limbs and head are appropriately proportioned to the size of the torso. The use of growth hormone has not been shown to significantly increase adult height when used in children with achondroplasia. Individuals with achondroplasia might require therapeutic support for issues related to social adjustment. Some individuals elect to undergo this surgery to achieve greater height for cosmetic and social purposes, but this procedure is not considered medically necessary.
  85. 85.  Osteogenesis ImperfectaOsteogenesis imperfecta, also called Brittle Bone Disease, is a genetic protein deficiency that results in fragile bones. The protein affected is usually Type-I collagen. The disorder is typically a dominant genetic trait that is passed through the parents, but it may also be a de novo mutation, with no family history. There are also two rare and recently discovered forms of osteogenesis imperfecta that are recessive genetic traits. Type II OI is the most severe form, in which collagen is of insufficient quality and quantity. Deformities and respiratory problems are severe, and most cases die within the first year of life. In types III, IV, V, and VI OI, collagen is produced in normal quantities, but its quality is poor. Sufferers of Types III, IV, V, and VI OI are characteristically short in stature, with a curved spine and a barrel- shaped rib cage. Type III is distinguished by being progressive; deformities and other symptoms may be slight at birth but develop over time.
  86. 86.  Management and treatmentOsteogenesis imperfecta is an incurable condition. Treatments to manage the disease include surgery, physical therapy, and physical aids. Bone infections are managed with antibiotics and antiseptics when they occur. Medication, either oral or intravenous, is also used to treat osteogenesis imperfecta.
  87. 87.  Vascular naevi:These defects in the development of the skin can be divided into two main types: Capillary malformations:These are due to defects in the dermal capillaries. The most commonly observed are ‗stork marks‘. These are usually found on the neck of the skin. They are generally small and will fade. No treatment is necessary.
  88. 88.  Port wine stain:A port wine stain is usually a large flat patch of purple or dark red skin with well-defined borders. At birth the surface of the port-wine stain is flat, but in time it becomes bumpy and often more unsightly. The face is most commonly affected although they can occur anywhere on the body.Laser treatment and the use skilful cosmetics will help to prevent this problem.
  89. 89.  Capillary haemangiomata (strawberry marks):-A capillary hemangioma, also called a strawberry mark, is a red birthmark that is either present at the time of birth or develops within the first few weeks of life. Most of these marks begin to fade by the time the child is between 12 and 15 months old, and some of the marks disappear completely. These birthmarks are more common in girls and babies who are born prematurely. Most capillary hemangioma do not cause problems, though they can create vision problems if present on or near the eye or breathing problems if they are near the nostrils or mouth. Treatment:-No treatment is normally required unless the haem-angioma is situated in an awkward area where it islikely to be subject to the abresion,such as on the lipor around the eye where it may interfere with vision.Treatment with steroids or pulsed laser therapy ispossible.
  90. 90.  Pigmented (melanocytic) naevi:-These are brown, sometimes hairy , marks on the skin that vary in size and may be flat or raised. A percentage of this type of birth mark may become malignant. Treatment:-Surgical excision may be recommended to pre empts this. This birth mark will be carried out in the immediate neonatal period except in the case of large pigment naevi. Laser removal is a more common procedure but is not always successful.
  91. 91. Genitourinary is a word that refers to the urinary and genital organs. Most neonatal genitourinary problems are due to congenital anomalies, it is may be finding a single umbilical artery in the umbilical cord. The first clues to urinary dysfunction are the quantity and quality of the urinary stream, and this should be scrutinized in every newborn. Common signs of dysfunction include anuria, hematuria, and masses. Anuria may be caused by obstruction, a vascular disorder, or renal agenesis or dysplasia. In the male, obstruction is commonly caused by posterior urethral valves. Posterior uretheral valves:-This is an abnormality affecting boys the presence of valves in the posterior urethra prevents the normal outflow of urine. As a result the bladder distention causing back pressure on the ureters and to the kidneys.
  92. 92.  Sign and symptoms:- Inability to void is a common presentation. an enlarged bladder that may be detectable through the abdomen as a large mass painful urination weak urine stream bedwetting or wetting pants after the child has been toilet- trained poor weight gain Causes:- PUV are the most common cause of severe types of urinary tract obstruction in children. It is thought to develop in the early stages of fetal development. The abnormality affects only male infants. This disorder is usually sporadic (occurs by chance). However, some cases have been seen in twins and siblings, suggesting a genetic component.
  93. 93.  Treatment:- Initially, treatment may focus on relieving your childs symptoms. If child has a urinary tract infection, is dehydrated, and/or has electrolyte irregularities, these conditions will be treated first. child may have a catheter placed in his bladder (a small hollow tube that is inserted into the penis through the urethra and is threaded up into the bladder). child may also receive antibiotic therapy and intravenous (IV) fluids. An urologist may perform a procedure called an endoscopic ablation. During this procedure, the urologist will insert an endoscope, a small, flexible tube with a light and a camera lens at the end. With this tube he/she will examine the obstruction and remove the valve leaflets through a small incision. In certain situations, a different procedure called a vesicostomy may be required. A vesicostomy is a small opening made in the bladder through the abdomen. Usually this opening is repaired at a later time when the valves can be cut more safely.
  94. 94.  Potter‘s syndrome:-―Potters Syndrome is one of several serious or fatal kidney abnormalities. In Potters (or Potter) syndrome the babys kidneys do not develop in the first few weeks of life in the womb. The babys kidneys are essential for the production of amniotic fluid in the womb. If there are no kidneys, there is little or no amniotic fluid (this is known as oligohydramnios) to expand the womb around the baby and to allow the baby to grow and move. The womb remains small and in its confined space the babys lungs cannot develop properly. Many babies with Potters syndrome are stillborn. In those who are born alive, the immediate cause of death is failure to breathe (respiratory failure) due to underdeveloped (hypoplastic) lungs, usually one or two days after delivery. Even if this problem is treated the baby cannot survive without kidneys. (Potters syndrome is also known as Renal Agenesis, which simply means that the kidneys did not developed.‖
  95. 95.  Treatment: Nutrition: Adequate nutrition is required. Nasogastric feeding may be indicated in infants. Electrolyte abnormalities such as hypocalcemia and hyperphosphatemia can be treated with medications, including calcium carbonate and vitamin D. Anemia is treated with oral or parenteral iron and erythropoietin stimulating agents. Growth: The use of growth hormone is indicated in children with a low birth weight who do not grow at a healthy rate.
  96. 96.  POLYCYSTIC KIDNEYS:- Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. Sign and symptoms:- Blood in the urine Urinary tract infection Kidney stones Drowsiness Nail abnormalities Increased abdominal guts Kidneys will be palpable. Causes:- PKD is caused by an inherited gene. Children have a 50% chance of developing PKD if one parent carries the gene. If a person has the PKD gene, he or she will have some form of the disease in his or her lifetime There is also a rare form of PKD, called autosomal recessive polycystic kidney disease, that affects newborns, infants, and children. This form of PKD can cause death in the first month of life.
  97. 97.  Treatment:-Most treatments for PKD treat the disease symptoms or prevent complications. Some of these treatment options may include: Pain medications must be used cautiously, since some of them can cause further damage to the kidneys. Antibiotics—In the event of a urinary tract infection, aggressive treatment with antibiotics is required to avoid further damage to the kidneys. Surgery—Cysts may be drained through surgery to relieve pain, blockage, infection, or bleeding. Cyst drainage may also temporarily lower blood pressure. Sometimes, one or both kidneys may be removed, called a nephrectomy , if pain is severe. Diet—A low-protein diet may reduce stress on the kidney. Avoiding salt can help maintain normal blood pressure and drinking lots of water can help reduce the risk of kidney stones . Dialysis and transplantation—More than half of PKD patients develop kidney failure and require dialysis . Dialysis is used to remove wastes from the blood, since the kidneys cannot. At this stage, dialysis will be a lifelong requirement unless a kidney transplant from a donor can be arranged and performed successfully.
  98. 98.  Hypospadias:- Hypospadias is a birth defect of the penis that commonly has four characteristics: The urethral opening is located on the underside of the penis, instead of the tip, and may exit the penis anywhere along its shaft as high as the scrotum. The urethral opening is unusually narrow. The entire foreskin may be bunched on the topside of the penis. The penis itself may be curved to one side. Causes:-The causes of hypospadias are unknown. There seems to be a genetic association, since a baby boy with a family history of hypospadias is slightly more likely to be born with the condition. Treatment:- Hypospadias is treated with surgery, usually when the child is between six and 18 months old. The aims of surgery include repositioning the urethral opening at the tip of the penis, removing the abnormal foreskin (which gives a circumcised appearance), and correcting the bend in the penis (if it is present) to allow sexual function. It is important not to have your son circumcised before the hypospadias repair, in case the foreskin is needed.
  99. 99.  Cryptorchidism:-―The condition in which the testes failed to descend into the scrotum and are retained within the abdomen or inguinal canal.‖ Causes:-About five per cent of all boys are born with this condition. Premature and low birth weight babies are at increased risk. Sign and symptoms:- The symptoms of undescended testicles include:The scrotum is empty on the affected side. Sometimes, the scrotum is empty on both sides. The condition is painless. Urination is not affected. Treatment:- Operation of orchidopexy is necessary to bring testes into the scrotum before puberty.
  100. 100.  INTERSEX:-―Intersex‖ is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn‘t seem to fit the typical definitions of female or male. For example, a person might be born appearing to be female on the outside, but having mostly male-typical anatomy on the inside. Causes:- There are many causes of intersex conditions in infants. They can be roughly divided into prenatal (before birth) and postnatal (immediately following birth). the most frequent and disturbing of postnatal causes are circumcision accidents that result in the permanent loss of an infant boy‘s penis. Prenatal causes of intersex conditions include many genetic and chromosomal conditions.
  101. 101. Treatment:- Ideally, a team of health care professionals with expertise in intersex should work together to understand and treat the child with intersex -- and to understand, counsel, and support the entire family. Parents should understand controversies and changes in treating intersex in recent years. Surgery was often recommended. It was considered easier to reconstruct female genitalia than functioning male genitalia, so if the "correct" choice was not clear, the child was often assigned to be a girl.
  102. 102.  AMBIGIUOUS GENITALIA:-Ambiguous genitalia is a birth defect where the outer genitals do not have the typical appearance of either a boy or a girl. Sign and Symptoms:- Usually, ambiguous genitalia in genetic females (babies with two X chromosomes) has the following features: An enlarged clitoris that looks like a small penis The urethral opening (where urine comes out) can be along, above, or below the surface of the clitoris. he labia may look like a scrotum The infant may be thought to be a male with undescended testicles Sometimes a lump of tissue is felt in the labia, further making it look like a scrotum with testicles. In a genetic male (one X and one Y chromosome), ambiguous genitalia usually include the following features: A small penis (less than 2-3 centimeters or 0.8-1.2 inches) that looks like an enlarged clitoris (the clitoris of a newborn female is normally somewhat enlarged at birth). The urethral opening may be along, above, or below the penis; it can be as low as on the peritoneum, further making the infant appear to be female. There may be a small scrotum that is separated and looks like labia. Undescended testicles commonly occur with ambiguous genitalia.
  103. 103.  Causes:- Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present. Mixed gonadal dysgenesis (MGD). An intersex condition in which there are some male structures (gonad, testis), as well as a uterus, vagina, and fallopian tubes Congenital adrenal hyperplasia. This condition has several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threatening condition during newborn screening exams. Lack of testosterone cellular receptors. Even if the body makes the hormones needed to develop into a physical male, the body cannot respond to those hormones. This produces a female body-type, even if the genetic sex is male. Lack of production of certain hormones can cause the embryo to develop with a female body type, regardless of genetic sex If the mother takes certain medications (such as androgenic steroids), they may make a genetic female look more male Chromosomal abnormalities
  104. 104.  Treatment:- Medications Hormone medications may help correct the hormonal imbalance. In some children, hormones may be administered shortly after birth and may be the only treatment necessary. Surgery In children with ambiguous genitalia, surgery may be used to: Preserve normal sexual function Create more natural-looking genitals For girls with ambiguous genitalia, the sex organs often work normally despite the ambiguous outward appearance. If a girls vagina is hidden under her skin, surgery in childhood can help with sexual function later. For boys, surgery to reconstruct an incomplete penis may improve appearance and make erections possible.
  105. 105.  CONGENITAL ADRENAL HYPERPLASIA:-―Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland. It is an autosomic recessive condition.‖ Causes:- People have 2 adrenal glands, one located on top of each of their kidneys. These glands make hormones, cortisol and aldosterone, that are essential for life. People with congenital adrenal hyperplasia lack an enzyme the adrenal gland needs to make the hormones. At the same time, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately). Sign and symptoms:- Symptoms will vary, depending on the type of congenital adrenal hyperplasia someone has and their age when the disorder is diagnosed. Girls with a more severe form often have abnormal genitals at birth and may be diagnosed before symptoms appear. Boys will appear normal at birth even if they have a more severe form.
  106. 106.  In children with the more severe form of the disorder, symptoms often develop within 2 or 3 weeks after birth. Poor feeding or vomiting Dehydration Electrolyte changes (abnormal levels of sodium and potassium in the blood) Abnormal heart rhythm Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes: Abnormal menstrual periods or failure to menstruate Early appearance of pubic or armpit hair Excessive hair growth or facial hair Failure to menstruate Some enlargement of the clitoris Boys with the milder form often appear normal at birth. However, they may appear to enter puberty early. Symptoms may include: Deepening voice Early appearance of pubic or armpit hair Enlarged penis but normal testes Well-developed muscles Both boys and girls will be tall as children but much shorter than normal as adults.
  107. 107.  Treatment:- The goal of treatment is to return hormone levels to normal, or near normal. This is done by taking a form of cortisol, most often hydrocortisone, three times per day. People may need additional doses of medicine during times of stress, such as severe illness or surgery. The health care provider will determine the genetic sex of the baby with abnormal genitalia by checking the chromosomes. Girls with male-looking genitals may have surgery during infancy to correct the abnormal appearance. Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects, such as obesity or week bones. It is important for parents to report signs of infection and stress to childs health care provider because the child may need more medication. Steroids cannot be stopped suddenly because doing so may lead to adrenal insufficiency.
  108. 108.  TERATOGENIC CAUSES:-―Teratogens are substances or other factors that can cause congenital abnormalities, which are also called birth defects. Usually these abnormalities arise in the third to eighth weeks of pregnancy, when the major organ systems are forming. Examples of teratogens include certain chemicals, medications, and infections or other diseases in the mother.‖ Chemicals and medications It is difficult to determine whether a particular chemical or medication causes congenital abnormalities. This is because many women take medications during pregnancy, and most studies have to rely on the mother‘s memory of what she took while she was pregnant. Some anti-epileptic drugs are associated with a wide array of birth defects, such as cardiovascular abnormalities, cleft palate, and microcephaly, which is a condition where the brain is too small. These drugs include phenytoin, valproic acid, and trimethadione. Women with epilepsy need special monitoring and care during pregnancy, which may include a change in medication. Warfarin, a blood-thinning drug, is a teratogen. Warfarin can cause central nervous system defects, including mental retardation, as well as problems with the optic nerves. Drugs called angiotensin-converting enzyme (ACE) inhibitors, which are used to treat high blood pressure, can cause a number of problems during pregnancy. ACE inhibitors can cause fetal growth restriction, problems with the baby‘s kidneys, and sometimes death of the baby during pregnancy.
  109. 109.  Isotretinoin, which is used to treat severe acne, is also linked with a number of congenital abnormalities. These include cleft palate, heart defects, abnormalities of the outer ears, and underdevelopment of the lower jaw. Isotretinoin is also linked with neural tube defects. Some types of tranquilizers, such as phenothiazine and lithium, are thought to be teratogens. Similarly, drugs used to treat anxiety, such as diazepam, are linked with congenital abnormalities such as cleft lip or palate. Hormones called androgens and progestins have been shown to make female fetuses more masculine. The baby‘s clitoris may be larger than normal, and the outer lips surrounding her genitals may be fused. Another hormone called diethylstilbestrol (DES), which is a form of estrogen, can cause abnormalities of the uterus, vagina, and cervix in girls.
  110. 110. Alcohol, smoking, and other drugsAlcohol use is a well-known cause of congenital abnormalities duringpregnancy.Abnormalities caused by alcohol in pregnancy include deformities of the face,arms, and legs, heart conditions, mental retardation, and fetal growthrestriction.Cigarette smoking is linked with fetal growth restriction and premature birth.Smoking may also cause problems with the development of the brain,cardiovascular system, and respiratory system.Exposure to marijuana during pregnancy may result in low birth weight,intracranial bleeding, jitteriness, low blood sugar, low levels of calcium in theblood, or an infection of the blood called sepsis.The use of opioid drugs, such as heroin or methadone, during pregnancy canlead to fetal growth restriction, premature birth, and low birth weight.Cocaine use is known to cause numerous problems during pregnancy. Theseinclude miscarriage, fetal growth restriction, and problems with thedevelopment of the urinary system or genital tract
  111. 111. Infections in the mother ―CHEAP TORCHES‖ is an acronym for a special group of infections that can affect the developing baby during pregnancy. CHEAP TORCHES stands for the following: C: Chickenpox and shingles H: Hepatitis B, C, D, E E: Enteroviruses, a group of viruses including poliovirus A: AIDS P: Parvovirus B19, also known as fifth disease T: Toxoplasmosis O: Other infections such as group B streptococcus, listeria, candida R: Rubella C: Cytomegalovirus H: Herpes simplex virus E: Everything else sexually transmitted such as gonorrhea and chlamydia S: Syphilis
  112. 112.  Myles (text book of midwifes) Medical dictionary Medlineplus medical encyclopedia