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Fetal autopsy

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  • 1. FETAL AUTOPSY PROCEDURE & PRECAUTIONS How To Know Cause Of Death Before Birth
  • 2. WHAT IS FETUS .. • Human embryo after the 8th week of gestation is called fetus.
  • 3. • Embryo -1 to 8 weeks gestation • Fetus- 8 weeks gestation to term • Stillbirth- Intrauterine/intrapartum fetal death after the age of legal viability (28 wk), i.e., born with no “signs of life” • Perinatal- Stillbirths + neonates in first week after birth • Early neonatal- First week after birth • Neonatal- First month after birth • Post perinatal -Between 1 week and 1 year • Post neonatal- Between 28 days and 1 year • Infant- From 1 week of age to 2 years of age
  • 4. • • • • Preterm <37 weeks gestation Term37 to 41 weeks of gestation Post term>42 weeks of gestation Small for dates -Weight at birth <10th centile expected for gestational age • Very low birth weight- Weight at birth <1500 gms • Premature Intrauterine growth retardation Preterm, small for dates and very low birth weight
  • 5. • Malformation - Morphologic defect resulting from an intrinsically abnormal developmental process • Deformation - Abnormal form, shape, or position of a structure, caused by mechanical factors • Dysplasia - Abnormal organization of tissue
  • 6. • Syndrome: A group of signs and symptoms that occur together and characterize a particular abnormality. • Sequence: Pattern of anomalies derived from a known (or presumed) malformation or mechanical factor. • Complex: Those groups of heterogeneous disorders with overlapping characteristics that are difficult to separate e.g., facio-auriculovertebral spectrum.
  • 7. • Developmental Field: Basic biological units of individual development and of evolution, and association to represent the idiopathic occurrence of multiple congenital anomalies during blastogenesis" (Opitz, 1985) • Association: Derivatives of nonspecific disruptive events acting on developmental fields.
  • 8. TYPES OF FETAL AUTOPSY 1.Medico-legal autopsy 2.Academic autopsy
  • 9. MEDICO-LEGAL AUTOPSY : • It is conducted on the requisition of police under the section Crpc 174.
  • 10. ACADEMIC AUTOPSY : • It is conducted on the request of pediatrician, gynecologist, radiologist or family members of fetus after the consent of parents with the collaboration of pathology department or concerning department.
  • 11. PURPOSE OF AUTOPSY 1. MEDICO-LEGAL AUTOPSY : • • • To know the cause of death. Age & sex of fetus. To know whether the fetus was viable or not.
  • 12. 2. ACADEMIC AUTOPSY : • To know the congenital malformations. • To know the cause, if any female is having repeated abortions.
  • 13. DOCUMENTS REQUIRED FOR FETAL AUTOPSY
  • 14. 1. MEDICO-LEGAL AUTOPSY : • Panchnama Police Inquest. 2. ACADEMIC AUTOPSY : • • Pre-natal & post-natal history. Consent from the parents.
  • 15. • • • • • • Mother’s age, parity, and ethnic origin Family history, including hereditary disease Gestational age at birth Data on any relevant maternal illnesses Details of previous pregnancies Full details of the present pregnancy, including LMP (last menstrual period) and EDD (estimated date of delivery) by dates and scans • Full details of labour and mode of delivery
  • 16. FETAL HYDANTOIN SYNDROME • Group of defects caused to the developing fetus by exposure to the teratogenic effects of phenytoin or carbamazepine • Abnormalities of the skull and facial features, underdeveloped nails of the fingers. • Cleft lip and palate, abnormally small head (microcephaly) and brain malformations with more significant developmental delays.
  • 17. TARGETED ULTRASOUND • A targeted ultrasound is a special ultrasound done around the 20th week of pregnancy.
  • 18. ANOMALY SCAN • This is a thorough ultrasound scan of the baby's anatomy and takes up to half an hour. The scan checks for a wide range of abnormalities that can be seen with ultrasound. It should be kept in mind that ultrasound is not able to identify all abnormalities. • The structure of the head, heart, abdomen, internal organs, umbilical cord, limbs, and spine is carefully assessed in addition to measurements to check baby's growth. The position of the placenta and the fluid around the baby is also assessed.
  • 19. CONSENT
  • 20. ARTICALS REQUIRED FOR FETAL AUTOPSY 1. Charts providing normal weight & other measurements for new born and still born.
  • 21. INSTRUMENTS REQUIRED FOR FETAL AUTOPSY
  • 22. 2. Sterile & non-sterile syringes and needles. 3. Sterile packs including scissors & forceps for culture and karyotyping. 4. Magnifying glasses. 5. Dissecting microscope preferably with Camera attached.
  • 23. 6. Pins & tags. 7. Dissecting board. 8. Sponges, gauze, guide wire and weight machine. 9. Flexible measuring tape.
  • 24. 10. Vernier caliper 50 cm for face measuremeent. 11. Scalpels, handles & blades. 12. Medium forcep with & without teeth. 13. Small scissor with one & both sides sharp points.
  • 25. 16.Microscopes. 17. Containers for tissue specimen.
  • 26. ASPECTS TO CONSIDER BEFORE THE POST MORTEM • • • • • • • • • • External examination Evisceration and block dissection Organ dissection in systems Special techniques used in perinatal and infant autopsies Taking samples for histology Examination of the placenta Estimation of gestational age and growth Demonstration of post mortem findings Determining the cause of death Writing the report
  • 27. • • • • • • • • WHOLE-BODY RADIOGRAPHY Chondrodysplasias Osteogenesis imperfecta Skeletal trauma Skeletal anomalies Gas—pneumothorax, necrotising enterocolitis Abnormal calcifications Estimation of gestational age via ossification centres
  • 28. • Blood for haematological examination ( grouping, Coombs’ test, and testing against maternal serum) • Blood and bronchial/tracheal swab or lung for bacteriology • Placenta for bacteriology • Lung or bronchial/tracheal swab for virology • Blood for viral serology [e.g., TORCH (toxoplasmosis–rubella–cytomegalovirus–herpes virus)] test and B19 (parvovirus) • Tissue for cytogenetic fibroblast culture
  • 29. • Retention of urine, CSF, and plasma for biochemistry • Comprehensive histology, including bone marrow and fat stains on frozen sections • Samples of liver, kidney, brain, and placenta for electron microscopy • Retention of frozen samples of skin, placenta, muscle, brain, liver, spleen, and kidney
  • 30. • External Examination • • • • Estimating the Degree of Maceration 12 hours Skin slippage 24 hours Skin blebs 48 hours Skin sloughing and autolysis of organs • 5 days Liquefied brain, overlapping of sutures, collapse of calvarium • 7 days Laxity and dislocation of joints Post Mortem Technique Handbook Second Edition Michael T. Sheaff
  • 31. Early death, Desquamation at approximately 4–6 h. The of skin patches about 1 cm in fetus exhibits hyperemia of diameter with blebs ( arrows ). the face and petechial Fetal hemorrhages on the chest death at approximately 8–10 h. Handbook of Pediatric Autopsy Pathology Enid Gilbert-Barness Diane E. Spicer Thora S. Steffensen Foreword by John M. Opitz
  • 32. Fetus with skin desquamation of approximately 25 % of the body with skin discoloration Fetal death at approximately 18–24 h. Fetus with skin slippage and cranial compression. Death at approximately 36 h. Handbook of Pediatric Autopsy Pathology Enid Gilbert-Barness Diane E. Spicer Thora S. Steffensen Foreword by John M. Opitz
  • 33. Fetus with cranial compression ( arrows ) adjacent to an ultrasound, which shows the characteristic Spalding sign
  • 34. AUTOPSY PATHOLOGY: A MANUAL AND ATLAS, SECOND EDITION ISBN: 978-1-4160-5453-5
  • 35. • EXTERNAL MEASUREMENTS • • • • • • • Body weight Crown–rump length (sitting height) Crown–heel length (standing height) Foot length Head circumference Abdominal girth (at the level of the umbilicus) Chest circumference (at the level of the nipples)
  • 36. • • • • • • • • Interpupillary distance Outer canthal distance Inner canthal distance Palpebral fissure length Philtral length Foot length Hand length Distance b/w Nipples
  • 37. Determination of the normal position of the ear. The line formed between the lateral aspect of the palpebral fissure and the occipital notch should pass through the mid-upper portion of the helix
  • 38. • Congenital anomalies in North Western Indian population – a fetal autopsy study Kapoor Kanchan et al 2013 GMCH, Chandigarh, India Eur. J. Anat. 17 (3): 166-175 (2013)
  • 39. A 24+ week female fetus with meningocele A 14 week female fetus with complete rachischisis.
  • 40. Bilateral polycystic kidneys in a 28 week male fetus. Enlarged cystic urinary bladder with dilated ureters.
  • 41. A case of omphalocele with abdominal visceral herniation enclosed in a transparent amniotic sac. A 28-week female fetus presenting complete cleft lip associated with complete cleft palate.
  • 42. • Evaluation of Fetal Autopsy Findings in the Hatay Region: 274 Cases Hakverdİ et al Mustafa Kemal University, Faculty of Medicine, Antakya/HATAY, TURKEY doi: 10.5146/tjpath.2012.01115
  • 43. A) Fetal Anencephaly, B) Radial Ray Malformation, C) Piepkorn Syndrome, D) Thanatophoric Dwarfism.
  • 44. A) Congenital Cervical Neuroblastoma, B) Anencephaly and Gastroschisis, C) AnencephalyIniencephaly-Thoracal Rashisisis, D) Sacrococcygeal Teratoma.
  • 45. Germ Cell Tumors Sacrococcygeal Teratoma Histologically they contain all three germ layers.
  • 46. • Neural tube defects and associated anomalies in a fetal and perinatal autopsy series Copenhagen University Hospital, Copenhagen, Denmark Nielsen et al Journal Compilation C 2006 APMIS ISSN 0903-4641
  • 47. A. 20 week fetus with lumbar myelomeningocele. B. 20 week fetus with occipital cephalocele and Meckel syndrome. C. 10 week fetus with exencephaly.
  • 48. ANENCEPHALY • This is a failure of anterior neural tube closure. There is absence of scalp, calvarium, and normal brain, which is replaced by an angiomatous mass. The eyes are bulging because the frontal bones are absent and the orbits are shallow. • The sella turcica is small and shallow, and the pituitary gland is hypoplastic. • The medulla and spinal cord are hypoplastic and often hemorrhagic.
  • 49. Anencephaly
  • 50. CRANIORACHISCHISIS • Craniorachischisis is where the brain and spinal cord remain open to varying degrees
  • 51. Craniorachischisi s
  • 52. Myeloschisis
  • 53. Posterior encephalocele
  • 54. INIENCEPHALY • “INION” - Nape of the neck • In this condition there is a deficiency of the occipital bone with cervicothoracic spinal fusion • A rare neural tube defect that combines extreme retroflexion (backward bending) of the head with severe defects of the spine. • Malformation consisting of a cranial defect at the occiput, with the brain exposed, often in combination with a cervical rachischisis and retroflexion. [G. inion, back of the head, + enkephalos, brain]
  • 55. INIENCEPHA LY
  • 56. RACHISCHISIS • Cleft spine • Embryologic failure of fusion of vertebral arches and neural tube with consequent exposure of neural tissue at the surface, spina bifida cystica with myelocele or myeloschisis.
  • 57. ARNOLD–CHIARI MALFORMATION • Type I Medulla and cerebellar tonsils displaced downward into spinal canal • Type 2 Type I + low meningomyelocele • Type 3 Type I + high cervical meningomyelocele Or • Type I + occipitocervical meningomyelocele Or • Type I + iniencephaly
  • 58. DANDY–WALKER MALFORMATION • DWM includes dilatation of the fourth ventricle and hypoplasia or absent vermis
  • 59. FETAL HYDROPS • Fetal hydrops is a generalized increase in total body fluid manifesting as edema and effusion in body cavities such as the pleural pericardial, and peritoneal spaces. • Effusion into two or more serous cavities. • It can be divided into the immune type which is caused by sensitization to blood group antigens, resulting in anemia, and the nonimmune types. Nonimmune fetal hydrops now accounts for almost 90 % of hydrops cases. • The Kleihauer–Betke test for fetomaternal haemorrhage .
  • 60. Generalized immune hydrops in rhesus blood group incompatibility
  • 61. Stillborn infant with hydrops and maceration
  • 62. POSTERIOR CERVICAL CYSTIC HYGROMA • Posterior cervical cystic hygroma refers to one or more lymphatic cysts lined by endothelium located in the nuchal area. It can be an isolated defect or it may be accompanied by other anomalies.
  • 63. Posterior cervical cystic hygroma Bilateral cystic hygrom as
  • 64. Second-trimester fetal death with cystic hygroma (arrows) and nonimmune hydrops. The fetus had Turner’s Syndrome.
  • 65. Bilateral cystic hygromas, opened to show multiple lobules
  • 66. FETAL ASCITES • Fetal ascites may be defined as the effusion of fluid into the peritoneal cavity, with consequent abdominal distension due to several different causes, accompanied by various lesions of the viscera, and leading usually to a delay in labor and intranatal or early postnatal death of the affected infant. • Most frequent causes were urinary tract obstruction (urinary ascites), chylous ascites, and hepato-gastrointestinal diseases.
  • 67. Fetus with urinary ascites
  • 68. OMPHALOCELE • An omphalocele is a defect of the anterior abdominal wall, at the insertion of the umbilical cord, ranging from a few centimeters in diameter up to extreme cases in which most of the anterior abdominal wall fails to develop. • The opening is covered by a translucent membrane composed of amnion and peritoneum, into which intestine and often other viscera protrude. • Trisomies 13, 18, and 21 and Beckwith– Wiedemann syndrome.
  • 69. Omphalocele
  • 70. GASTROSCHISIS • Gastroschisis is a congenital paraumbilical defect of the anterior abdominal wall with evisceration of loops of bowel through the opening.
  • 71. Gastroschisis
  • 72. THANATOPHORIC DYSPLASIA (TD) • Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that is lethal in the neonatal period. The term, thanatophoric, derives from the Greek word thanatophorus, which means "death bringing" or "death bearing." • Macrocephaly, narrow bell-shaped thorax, normal trunk length, and severe shortening of the limbs.
  • 73. Thanatophoric dysplasia
  • 74. OSTEOGENESIS IMPERFECTA (OI) • Osteogenesis imperfecta (OI) is disorder of congenital bone fragility caused by mutations in the genes that codify for type I procollagen • Type I - Mild forms • Type II - Extremely severe • Type III - Severe • Type IV - Undefined
  • 75. RENAL AGENESIS • Bilateral agenesis results in oligohydramnios, premature birth, and Potter sequence.
  • 76. AUTOSOMAL-RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) CLASSIC INFANTILE POLYCYSTIC DISEASE
  • 77. Hepatic fibrosis ARPKD Associated with Congenital Hepatic Fibrosis
  • 78. RESPIRATORY SYSTEM • The ratio of the combined weight of the lungs to the body weight is used to determine pulmonary hypoplasia. In infants below 28 weeks, a ratio of 0.015 or less indicates hypoplasia; above 28 weeks, the ratio for hypoplasia is 0.012 or less • Hydrostatic test of lung
  • 79. CHALLENGING DISSECTIONS In fetuses younger than 20 weeks, much of this dissection is aided by a high quality dissection microscope. • Heart • Fetal circulatory system (foramen ovale, ductus arteriosus, umbilical arteries and vein) • Male urethra
  • 80. If the sutures are open, Beneke’s technique is used
  • 81. • TRISOMY 13 PATAU SYNDROME• • • • • • • • Moderate microcephaly with a sloping forehead Eye defects including microopthalmos or coloboma Cleft lip or palate Often a capillary haemangioma over the forehead and localised scalp defects may be present over the parieto-occipital region Ears may be abnormally formed and low-set Frequently loose skin over the back of the neck Polydactyly is common and there are often simian creases and prominent heels (rocker-bottom foot) Common internal anomalies usually involve the central nervous system (CNS), heart, and kidneys
  • 82. Trisomy 13. Midline facial defect, hypotelorism, and midface hypoplasia.
  • 83. • TRISOMY 18 EDWARDS SYNDROME• Often produces severe growth retardation • Head characteristically has a prominent occiput and a narrow bifrontal diameter • Ears are low-set and deformed, the palpebral fissures are small, the mouth is small, and there is micrognathia • Hands are often clenched, with the index finger overlapping the fourth, and the hallux is often short and dorsiflexed • A small pelvis may also be present, with limited adduction of the hip joints • Common internal abnormalities include ventricular septal defect and both CNS and renal anomalies
  • 84. Radial aplasia in trisomy 18, causing deviation of the right hand Trisomy 18 in a 21 week fetus. The typical features of low-set ears, upturned nares, micrognathia, and slender bridge of nose
  • 85. Trisomy 18 with clenched hand and overlapping fingers Rockerbottom feet in trisomy 18.
  • 86. • TRISOMY 21 DOWN SYNDROME• Brachycephaly with a flatter than normal occiput and slight microcephaly • Face is also relatively flat with a small nose, a low nasal bridge, and inner epicanthic folds • Palpebral fissures slant upward from inner to outer canthus • Ears are small with overfolding of an angulated upper helix • May be excess skin on the back of the neck and the neck itself may be short • Hands have short metacarpals and phalanges with hypoplasia of the midphalanx of the fifth finger which often also shows clinodactyly
  • 87. • This short fifth finger may have a single crease and there is often a single transverse palmar crease • May also be a wide gap between first and second toes, with a marked plantar crease • Pelvis is usually hypoplastic with an outward flaring of the iliac wings and a shallow acetabular angle • Most common internal abnormalities are cardiac and gastrointestinal anomalies
  • 88. Brushfield spots, visible in the irises of a baby with Down Syndrome
  • 89. Fetus of trisomy 21 at 39 weeks of gestation with typical facial features. Fetus of trisomy 21 at 22 weeks of gestation with more subtle features. Brachycephaly, posteriorly rotated ears, and increased nuchal thickness
  • 90. KETTERING TEST OR THE BART'S TEST
  • 91. • TURNER’S SYNDROME • Usually a small stature, a low posterior hairline, and a short neck with webbing or loose skin folds • Anomalous ears, a narrow maxilla, a broad chest with widely spaced nipples, cubitus valgus, and lymphoedema • Internal abnormalities include ovarian dysgenesis and renal and cardiac anomalies
  • 92. • MECKEL–GRUBER SYNDROME • A posterior encephalocoele and polydactyly • Seen in association with renal anomalies
  • 93. Meckel syndrome Infant with microcephaly, occipital encephalocele (not seen in the picture), polydactyly, and distended abdomen caused by huge cystic kidneys.
  • 94. Meckel syndrome A 16-week fetus with small occipital encephalocele, polydactyly, and slightly distended abdomen
  • 95. • ZELLWEGER SYNDROME (A PEROXISOMAL DISORDER) • A large fontanelle, a high forehead with shallow supraorbital ridges and a flat occiput • Limb contractures with camptodactyly and simian creases may also be present • Associated internal abnormalities include CNS, liver, and renal anomalies with excess iron storage
  • 96. Zellweger syndrome. The kidney contains multiple cysts
  • 97. BECKWITH–WIEDEMANN SYNDROME • Macrosomia, with a particularly large tongue • Many also show a small omphalocoele and a particular crease pattern to the ear lobes • Associated internal abnormalities are numerous and include renal, adrenal, and pancreatic anomalies
  • 98. Beckwith–Wiedemann syndrome. Ear with creases ( arrows on left) and pits ( arrows on right)
  • 99. Beckwith Wiedemann syndrome. Infant with macroglossia
  • 100. Omphalocele in Beckwith– Wiedemann syndrome Adrenal cytomegaly in Beckwith–Wiedemann syndrome
  • 101. • MERCURY POISONING (MINAMATA DISEASE) • Growth retardation, microcephaly, and limb deformities • Androgenic Steroids • Female virulization of the external genitalia • ANTICONVULSANTS • Produce oral clefts and skeletal and digital anomalies • Associated internal abnormalities include cardiac and CNS anomalies • WARFARIN • Nasal hypoplasia and skeletal anomalies • Internal abnormalities include optic atrophy
  • 102. • FETAL ALCOHOL SYNDROME • Microcephaly, short palpebral fissures, and maxillary hypoplasia Joint anomalies • Growth retardation • Rubella Infection During the First Trimester • Growth retardation • Microcephaly, microopthalmia, and cataracts • Also see osteolytic lesions of bone metaphyses • Associated internal abnormalities including cardiac, CNS, and hepatosplenic anomalies
  • 103. Warfarin embryopathy. The infant has a hypoplastic nose with marked deficiency of cartilage, resulting in a saddle nose Infant with fetal alcohol syndrome with short narrow palpebral fissures, mild ptosis, small nose, anteverted nostrils, smooth philtrum, and narrow vermilion upper lip
  • 104. ARTIFACTS ASSOCIATED WITH FETAL AUTOLYSIS • • • • Dehydration Laxity of joints Herniation of CNS tissue Degenerating epithelial cells in the small airways • Hemorrhages
  • 105. • Umbilical cord “narrowing” is a controversial subject. Narrowing of the umbilical cord diameter, particularly in the 1-2 cm segment immediately adjacent to the abdominal wall is a common finding in autolyzed fetuses. It is usually associated with histological loss of Wharton’s jelly (focal dehydration?) and less commonly with obvious ante mortem vascular obstruction (thrombosis, hemorrhage, severe congestion).
  • 106. LIMITATIONS IMPOSED BY AUTOLYSIS • Liquefaction of the brain • Cytogenetic studies
  • 107. PLACENTAL EXAMINATION - WHY? • Placenta explains cause of death • Placental pathology explains the cause of prematurity
  • 108. GROSS PLACENTAL EXAMINATION
  • 109. UMBILICAL CORD • • • • • • Vessels Length – 50-70cm at term Diameter– 1.5-3cm at term Twist/coils– 3 in 10 cm Insertion Knots
  • 110. single umbilical artery
  • 111. MEMBRANES • • • • Completeness Rupture Site Insertion Color
  • 112. CUTTING OF DISC
  • 113. Second-trimester placenta in congenital herpes simplex type II infection, with multiple yellow lesions.
  • 114. Gross appearance of the placenta in villitis of unknown etiology (VUE) with poorly de fined white, almost granular areas.
  • 115. Twin-to-twin transfusion. Surface anastomoses laser photocoagulation
  • 116. Amniotic bands.
  • 117. Umbilical Cord Stricture • Specific narrowing in the umbilical cord is associated with loss of Wharton’s jelly in that region. This most commonly occurs near the cord insertion at the umbilicus. Most frequently, this is the result of excessive cord coiling and results in intrauterine fetal demise. There is often associated fetal growth restriction. Strictures may also be seen in relation to amniotic bands.
  • 118. ASSOCIATION VACTERL- ( VATER )– V - Vertebral anomalies – A - Anal atresia – C - Cardiovascular anomalies – TE - Tracheoesophageal fistula – R - Renal (Kidney) and/or radial anomalies – L - Limb defects
  • 119. MURCS Association Mullerian duct aplasia, Renal dysplasia, and Cervicothoracic somite malformation CHARGE Association Coloboma Heart defects Atresia choanae Retardation of growth and development. Genital and urinary abnormalities Ear abnormalities and/or hearing loss
  • 120. • SCHISIS Association• Schisis (midline) defects, including neural tube defects (anencephaly, encephalocele, meningomyelocele), oral clefts (cleft lip and palate), omphalocele, and diaphragmatic hernia, Congenital cardiac defects, limb deficiencies, and defects of the urinary tract, mainly renal agenesis, are defects that also have a high association.
  • 121. SEQUENCES
  • 122. Potter’s pathology
  • 123. • OLIGOHYDRAMNIOS (FROM WHATEVER CAUSE) • Low-set ears, a “parrot” nose, and prominent epicanthic folds • Large, spade-like (“washer-woman’s”) hands • Lower limbs often show distortion, hip dislocation, and talipes • Associated internal abnormalities include renal anomalies and pulmonary hypoplasia
  • 124. Pierre Robin Sequence Micrognathia, glossoptosis, and cleft soft palate Prune-Belly Sequence and Related Defects Triad of apparent absence of abdominal muscles, urinary tract defects, and cryptorchidism
  • 125. DiGeorge syndrome • CATCH-22 • Cardiac Abnormality (especially tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/Hypoparathyroidism.
  • 126. FRASER SYNDROME • It is characterized by developmental defects including cryptophthalmos (where the eyelids fail to separate in each eye), and malformations in the genitals (such as micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears, larynx and renal system, as well as mental retardation, manifest occasionally.Syndactyly (fused fingers or toes) has also been noted in some cases.
  • 127. TREACHER COLLINS SYNDROME (TCS) • Mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.
  • 128. SUDDEN INFANT DEATH SYNDROME • Sudden infant death syndrome (SIDS) is defined as the sudden death of an infant younger than 1year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and a review of the clinical history.
  • 129. • Post Mortem Technique Handbook Second Edition Michael T. Sheaff, BSc, MB BS, FRCPath Department of Morbid Anatomy and Histopathology, Royal London Hospital,Whitechapel, London, UK Deborah J. Hopster, BSc, MBChB, MRCPath Department of Histopathology,Whittington Hospital, London, UK
  • 130. • Handbook of Pediatric Autopsy Pathology Enid Gilbert-Barness Diane E. Spicer Thora S. Steffensen Foreword by John M. Opitz

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