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Dysmoorphology

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Dysmorophology

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Dysmoorphology

  1. 1. Genetics 1
  2. 2. Dysmorphology Phenotypic features which when present in combination suggest the presence of chromosomal abnormalities ( numerical or structural ).
  3. 3. Head and CNS
  4. 4. Microcephaly
  5. 5. Macrocephaly.
  6. 6. “Setting sun” sign Increased intracranial pressure may result from hydrocephalus subdural hematoma. It can occur in parenchymal or midbrain lesions, especially kernicterus.
  7. 7. Hydranencephaly failure of the development of the cerebrum with resulting gross dilatation of the ventricles
  8. 8. Dandy-Walker malformation a cyst-like dilation of the fourth ventricle, an abnormal cerebellar vermis, elevation of the tentorium cerebelli and lateral and transverse sinuses and torcula (torcular Herophilli), lack of patency of the foramina of Magendie and Luschka, enlargement of the posterior fossa, hydrocephalus.
  9. 9. • lacunar skull (lückenschädel): defective calcification of the skull bones associated with neural tube defects (encephalocele and meningocele).
  10. 10. Neural tube defects • Anencephaly
  11. 11. Craniorachischisis
  12. 12. Encephaloceles bony defects of the skull with protrusion of the meninges which may contain neural tissue. They are most common in the occipital area.
  13. 13. Floppy infant
  14. 14. Congenital parietal foramina
  15. 15. Normal sutures
  16. 16. • Dolichocephaly : sagittal suture remains open. Common in preterms.
  17. 17. • Scaphocephaly: Premature fusion of the sagittal suture
  18. 18. Brachycephaly: premature fusion of the coronal sutures
  19. 19. • Trigonocephaly is due to premature fusion of the metopic suture and is represented clinically by a triangular-shaped head
  20. 20. Plagiocephaly (oblique- shaped skull) occurs with premature fusion of a single suture (such as the coronal or lambdoidal) or with a congenital postural deformity
  21. 21. Kleeblattschädel (“cloverleaf ”skull) is the result of premature fusion of the sagittal and coronal sutures. There is a trilobed appearance of the skull with indentations in the center and in the temporal regions.
  22. 22. Carpenter’s syndrome (acrocephalopolysynd actyly) high steep protruding forehead, turribrachycephaly due to fused coronal sutures, the flat midface, the small pinched nose, and the downward slanting of the palpebral fissures.
  23. 23. • Prominent occiput.
  24. 24. • Cutis aplasia congenita: Associated with embryologic malformations such as meningomyelocele and spinal dysraphia, omphalocele, and gastroschisis.
  25. 25. Ears
  26. 26. Ears • Small or large. • Malformed. • Low set ears • Transverse crease. • Tags
  27. 27. Microtia Hypoplasia of the pinna associated with atresia of the external auditory canal
  28. 28. Otocephaly Bow- tie shaped due to branchial arch embryopathy resulting in agnathia, microstomia, and small posteriorly positioned hypoplastic tongue. The ears are very low set and the lower lobes may be fused to the neck which was short and thin. Aural ascent does not occur due to the lack of development of the jaw, hence the low position of the ears. These infants typically have hypoplastic lungs.
  29. 29. Eyes
  30. 30. • Upward or downward slanting of the palpebral fissures . • Hypertelorism (Telecanthus ).
  31. 31. • Epicanthal folds.
  32. 32. • Synophrys .
  33. 33. • Congenital glucoma.
  34. 34. • Congenital cataract.
  35. 35. Retinoblastoma
  36. 36. Brushfield eyes brown irides which are pathognomonic for Down syndrome
  37. 37. Subconjunctival hemorrhages resolve spontaneously without any consequences.
  38. 38. Dacryocystocele may occur as an autosomal dominant in families The lacrimal sac is blocked at both ends and a sterile swelling appears as a purplish swelling adjacent to the base of the nose. Simple lacrimal probing allows for a swift resolution of this problem
  39. 39. Ankyloblepharon filiforme adnatum fusion of the upper and lower eyelids by small filiform attachments which can be cut with scissors.
  40. 40. Coloboma
  41. 41. Treacher-Collins syndrome
  42. 42. Goldenhar’s syndrome hemifacial macrosomia, are colobomas of the upper lids, solid epibulbar dermoids located at the inferotemporal border of the cornea, and solid lipodermoids located in the superotemporal sulcus near the lacrimal gland. Oculoauriculovertebral dysplasia is sporadic and the basic defect is unknown.
  43. 43. Fraser’s syndrome An autosomal recessive disorder which occurs when the maturation of the lids is interrupted and the lid folds fail to develop. This infant shows complete cryptophthalmos by the left lid (surface ectoderm) with complete coverage of the corneal epithelium.
  44. 44. Congenital entropion inturning of the lower nasal lid such that the lashes irritate the cornea.
  45. 45. Congenital ectropion The tarsal conjunctiva is chemotic, hyperemic, and protrudes outward. The lid returns to normal a few days following application of ophthalmic ointment and moist sterile gauze dressings.
  46. 46. Exophthalmos Neonatal Hyperthyroidism, craniofacial anomalies and shallow Orbits e.g: Crouzon's syndrome
  47. 47. Aniridia Autosomal dominant absence of iris also occurs as a deletion syndrome (del 11p13) known as the WAGR syndrome (Wilms’ tumor, Aniridia, Genitourinary anomalies, and mental Retardation).
  48. 48. Megalocornea enlarged corneal diameter present at birth intraocular pressure is not increased.
  49. 49. Heterochromia Tuberous sclerosis, waardenburg syndrome and normal individuals
  50. 50. Nose
  51. 51. • Depressed nasal bridge.
  52. 52. Nasal cleft may occur in otherwise normal infants.
  53. 53. • Peaked nose.
  54. 54. • Bulbous nose.
  55. 55. Philtrum.
  56. 56. Choanal atresia blockage of one or both choanae and may present shortly after birth with cyanosis which is relieved when the infant cries. unilateral in 90% of cases more common in female Associations occur with facial anomaly syndromes such as Apert’s and Treacher- Collins, and with the CHARGE sequence (coloboma, heart disease, atresia of the choanae, retarded postnatal growth and development, genitourinary anomalies, and ear anomalies and deafness).
  57. 57. Proboscis lateralis is a congenital abnormality in which the nose fails to develop normally.
  58. 58. Median cleft syndrome
  59. 59. Cyclopia superior proboscis holoprosencephaly
  60. 60. Mouth
  61. 61. Lower jaw • Retromicrognathia.
  62. 62. Mouth • Cleft lip and palate.
  63. 63. Microstomia may occur in normal infants or is associated with many syndromes such as Hallermann-Streiff syndrome, Freeman- Sheldon syndrome and mosaic trisomy 8.
  64. 64. Macrostomia may be unilateral or bilateral and is associated with deformities of the outer ear, hypoplasia of the mandible or maxilla, and cleft palate.It is also seen in Goldenhar’s syndrome (unilateral macrostomia, antimongoloid slant to the eyes, preauricular skin tags, and deafness).
  65. 65. Eruption cysts in an infant at birth
  66. 66. Natal teeth lower incisors X-ray films are needed 1. Predeciduous teeth. They are usually loose, and the roots are absent or poorly formed. Removal is necessary to avoid aspiration. 2. True deciduous teeth. These teeth are true teeth that erupt early. They should not be extracted.
  67. 67. Ellis-van Creveld syndrome (chondroectodermal dysplasia) defect in the upper lip due to fusion ofthe labiogingival margins of the upper lip. lip
  68. 68. Gum hypertrophy due to a mother treated with phenytoin during pregnancy.
  69. 69. Epstein’s pearls small cluster of whitish- yellow swellings at the junction of the soft and hard palate in the midline.
  70. 70. Bohn’s nodules inclusion cysts on the alveolar margin in this infant.
  71. 71. Congenital epulis a form of embryonal hamartoma.
  72. 72. Tongue • Macroglossia. • It may be true or pseudo.
  73. 73. Aglossia hypoglossia aglossia/hypoglossia adactylia syndrome.
  74. 74. Hamartomatous masses on tongue Orofaciodigital syndrome, Type I
  75. 75. Neck • Short webbed neck.
  76. 76. Congenital midline cervical cleft failure of the branchial arches to fuse in the midline. It most commonly affects females
  77. 77. Sternomastoid tumor When delivery has involved excessive rotation or gross lateral rotation of the neck, a lump may appear in the sternomastoid muscle
  78. 78. Branchial clefts result in remnants, fistulae or cysts. Defects are usually unilateral and the external opening lies at the anterior edge of the sternocleidomastoid muscle, usually at the lower third. Secondary bacterial infection and cyst formation may occur. In this infant there is a branchial cleft remnant
  79. 79. Cystic hygroma (lymphangioma) soft fluctuating mass. consist of proliferation of lymph vessels. Although not malignant, they may spread over the neck with extension into the mouth.
  80. 80. Hand
  81. 81. Hand • Polydactyl
  82. 82. • Syndactyly
  83. 83. • Brachydactyly: short broad hand
  84. 84. Camptodactyly trigger finger
  85. 85. • Clinodactyly
  86. 86. • Simian crease
  87. 87. • Clenched hand
  88. 88. Hypoplastic nails
  89. 89. Acheiria
  90. 90. Floating thumb
  91. 91. • Macrodactyly
  92. 92. Lobster-claw deformity (ectrodactyly, or split hand/split foot deformation).
  93. 93. Foot
  94. 94. Foot • Talipus equinovarus
  95. 95. • Rocker bottom heel
  96. 96. • Polydactyly
  97. 97. Wide separation between first and second toes
  98. 98. limbs Dislocation of the hip: common in females
  99. 99. Congenital absence of patellae: in a normal infant. this finding is also noted, trisomy 8 and Nievergelt syndrome.
  100. 100. limbs • Amelia: is absence of the entire limb structure
  101. 101. Phocomelia syndrome: more proximal portion of a limb fails to develop properly but distal structures are relatively intact. Common with maternal thalidomide ingestion
  102. 102. Sirenomelia
  103. 103. Caudal regression $
  104. 104. Absent radius: TAR $ Fanconi anemia
  105. 105. Arthrogryposis multiplex congenita: contractures, muscular hypotonia,generalized thickening of the skin withdimpling, and hip subluxation; and bilateral talipes equinovarus, opisthotonos and scoliosis of the spine
  106. 106. Chest and abdomen
  107. 107. Asphyxiating thoracic dystrophy ) Jeune's syndrome( autosomal recessive due to the short ribs results in a small chest which limits pulmonary expansion and severely restricts respiration. Because of the small thorax, the whole liver lies in the abdomen, producing the rounded and enlarged appearance.
  108. 108. Esophageal atresia
  109. 109. Congenital diaphragmatic hernia may lie in the hemithorax during fetal life, resulting in hypoplasia of the lungs.
  110. 110. Ectopia cordis
  111. 111. Umbilical granuloma overgrowth of granulomatous tissue at the umbilicus when the cord separates. These occur more commonly in infants with large, thick umbilical cords. The tissue may be friable and bleeds easily. This can be treated with silver nitrate cauterization. Infants who have discharge or foul odor at the umbilicus may have umbilical granulomas or patent vitellointestinal duct.
  112. 112. Omphalocele failure of the complete return of intestines to the abdominal cavity in early fetal life (10 weeks). Extra- abdominal contents are positioned midline. The umbilical cord is incorporated and a sac is present. Intestinal malrotation is a frequent associated finding. Omphaloceles may occur as isolated findings or can be associated with other congenital and chromosomal abnormalities. It is frequently seen in trisomy 13 and in Beckwith-Wiedemann syndrome.
  113. 113. Gastroschisis anterior abdominal wall defect which is usually paramedian to the right of the umbilical cord insertion. there is no covering membrane.
  114. 114. Prune belly syndrome absence of the abdominal musculature
  115. 115. Ectopia vesica
  116. 116. 119

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