Related Experiment Videos
Acrofacial dysostosis with ambiguous genitalia
E A Wulfsberg1, J Curtis, T E Wiswell
1Medical Genetics/Dysmorphology, National Naval Medical Center, Bethesda, Maryland 20814.
American Journal of Medical Genetics
|November 1, 1990
Summary
A rare case of atypical acrofacial dysostosis (AFD) in a 46,XY infant presented with ambiguous genitalia, a first reported occurrence. This expands the known spectrum of anomalies associated with AFD, a group of genetic disorders.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Acrofacial dysostoses (AFD) are a heterogeneous group of disorders.
- Characterized by mandibulofacial dysostosis and limb defects, potentially representing a polytopic field defect.
- Classified into preaxial, postaxial, lethal, and atypical types based on limb anomalies.