Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies.
A 23-year-old man with Aarskog's syndrome had Hirschspring's disease, midgut malrotation, a renal cyst, a cartilaginous projection of the pinna, geographic tongue, and dental anomalies. The family history, negative for these features, including several malignancies. Any or all of these features could be considered part of Aarskog's syndrome and may represent anomalies of neural crest development.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D006801:Humans; D007621:Karyotyping; D008297:Male; D008531:Megacolon / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications / Q000235:genetics