A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
The following report presents the clinical findings and natural history of a growth disorder affecting seven male patients from the same family. In addition to short stature they all had a similar pattern of anomalies and the condition appears to constitute a previously undescribed, probably X-linked recessive, nosologic entity.
D000293:Adolescent; D000328:Adult; D001827:Body Height; D003456:Cryptorchidism / Q000150:complications; D004392:Dwarfism / Q000150:complications / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities*; D006547:Hernia / Q000150:complications; D006801:Humans; D008297:Male; D010375:Pedigree; D012730:Sex Chromosomes