Pedigree ID | Cerebral | Craniofacial | Gastrointestinal | Genitourinary |
---|---|---|---|---|
I.1* XY TOP 21 weeks | Hydrocephalus Cerebellar hypoplasia Agenesis of corpus callosum | Cleft palate Micrognathia Rounded head Low-set ears | Duodenal atresia | Bilateral renal hypoplasia |
I.2* XX IUD 17 weeks | Hydrocephalus | Prominent nose High nasal bridge Short columella Wide mouth | Duodenal atresia | Bilateral renal hypoplasia |
I.3 XX | Normal | Normal | Normal | Normal |
I.4* XX Twin1 IUD 22 weeks | Hydrocephalus Agenesis of corpus callosum | Cleft palate | Duodenal atresia Malrotation Accessory spleens | Bilateral renal hypoplasia |
I.5* XY Twin 2 IUD 22 weeks | Hydrocephalus Agenesis of corpus callosum | Microcrania Hypertelorism Broad nasal root Low-set ears | Duodenal atresia Multiple SI atresia Malrotation | Bilateral renal hypoplasia |
I.6 XY | Normal | Normal | Normal | Normal |
*Affected.
SI, small intestine.