Syndromes with cerebral, renal, and digital malformations as the main features
| Fraser | Smith-Lemli-Opitz type II | Winter-Tsukuhara | Cerebro-reno-digital spectrum1 | This report, sib 1 | This report, sib 2 | |
|---|---|---|---|---|---|---|
| Craniofacial anomalies | ||||||
| Microcephaly | ± | + | + | ± | ++ | ++ |
| Pachygyria | − | − | + | ± | − | − |
| Cryptophthalmos | + | − | − | − | − | ± |
| Ptosis of eyelids | − | + | − | − | − | − |
| Cleft palate | + | + | − | + | − | − |
| High arched palate | ± | + | − | − | + | − |
| Abnormal nose | + | + | + | − | + | + |
| Abnormal ears | + | − | + | ± | + | − |
| Micrognathia | ± | ± | − | ± | + | + |
| Hands | ||||||
| Skin syndactyly | + | − | + | − | − | − |
| Camptodactyly | − | − | + | − | − | + |
| Polydactyly (postaxial) | − | + | − | + | − | − |
| Oedema | − | − | + | − | + | + |
| Contractures | − | − | − | − | + | + |
| Low set thumb | ± | − | − | − | + | − |
| Feet | ||||||
| Skin syndactyly | ||||||
| Toes II−III | + | + | − | − | − | + |
| Toes IV−V | + | ± | − | − | + | + |
| Club feet | + | − | + | − | + | + |
| Skin | ||||||
| Hygroma colli | − | − | + | − | + | + |
| Urogenital | ||||||
| Renal agenesis | + | − | − | + | − | − |
| Renal dysplasia | ± | ± | + | + | + | + |
| Abnormal genitalia | + | + | + | ± | − | + |
| Thorax | ||||||
| Cor vitium | ± | + | + | + | − | − |
| Laryngeal atresia | + | − | − | ± | − | − |
| Abdomen | ||||||
| Umbilical hernia | + | − | − | ± | − | − |
| Umbilical displacement | + | − | − | − | − | − |
| Malrotation of gut | ± | ± | − | − | − | − |
| Anal atresia | + | − | − | ± | − | − |
| Skeletal defects | + | − | − | ± | − | ± |
| Lethal | ±/+ | ±/+ | + | + | + | + |
| Mental retardation | + | ++ | NA | + | NA | NA |
NA: not applicable.