Acrofacial dysostosis with ambiguous genitalia

✍ Scribed by Wulfsberg, Eric A. ;Curtis, Jerri ;Wiswell, Thomas E. ;Puntel, Robert A. ;Levin, Sondra W.

• Book ID: 101442253
• Publisher: John Wiley and Sons
• Year: 1990
• Tongue: English
• Weight: 493 KB
• Volume: 37
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320370318

✦ Synopsis

We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phalliclscrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofa-cia1 dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacialflimb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.