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| | ESHG Posters 3 |
 | | The second child was a male born with hypotrophy, auricular septal defect, genital hypoplasia, cryptorchidism and hypospadias, microcephaly, partial corpus callosum agenesis and brachydactyly. |
 | | The autopsy revealed: intra-uterine growth retardation, hydrocephaly, facial dysmorphy characterized by microcephaly, hypertelorism, low-set deformed ears, micrognaty, microphthalmy, dextrocardia, polycystic lungs, skeletal abnormalities including deformity of the chest, 13 ribs on right, flexion contractures of the right foot, deformities of the fingers, hypoplastic fallus bound by chordee, hipoplastic scrotum. |
 | | Congenital cataracts or other structural anomalies of the eye as well, as arthrogryposis or early postnatal contractures of the spine (kyphosis, scoliosis) and joints may be present.This group overlaps clinically with two genetic conditions bearing different names, the cerebro-oculo-facial syndrome (COFS) and Pena-Shokeir type II syndrome. |
| www.medacad.org /eshg/abstracts/posters3.htm (16548 words) |
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