Central nervous system | Agenesis of the corpus callosum, Dandy-Walker anomaly†, holoprosencephaly†, NTD†, hydrocephalus†, CPC†, encephalocele |
Facial | CLP†, micrognathia†, hypotelorism† |
Gastrointestinal | Oesophageal atresia, diaphragmatic hernia†, exomphalos†, gastroschisis, anorectal atresia |
Urogenital | Bilateral renal agenesis, MKK†, pyelectasis, PKK, vesico-ureteral reflux, hypospadia, horseshoe kidney† |
Skeletal | Osteogenesis imperfecta type III, clubfoot, rockerbottom foot†, clinodactily†, hesadactily†, thanatophoric dwarfism, arthrogriposis†, bilateral radial aplasia† |
Syndromes | Ellis van Creveld, Cornelia de Lange, Roberts, Jeune |
Other | Cystic hygroma† single umbilical artery, eye anomalies, external ear anomalies |
Chromosomal | Monosomy X (7 cases), trisomy 21 (3 cases), trisomy 18 (3 cases), trisomy 13 (2 cases), microdeletion 22q11, unbalanced translocation 2–21, unbalanced translocation 5–6, del 16q, trisomy 16q (1 case each) |