Pycnodysostosis in a Pakistani family: case presentation and review.
Pycnodysostosis is described for the first time in a Pakistani family. Two cases are presented and are contrasted with cases of osteopetrosis seen in this hospital over a twenty year period. The possibility of confusion with osteopetrosis is indicated and discussed.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D004413:Dysostoses / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009958:Orofaciodigital Syndromes / Q000175:diagnosis / Q000235:genetics; D010022:Osteopetrosis / Q000175:diagnosis; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree; D012606:Scotland