Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.

Abstract excerpt

We describe four affected children belonging to a large, highly inbred Muslim family originating from the North West Frontier Province of Pakistan. All children have a similar pattern of skeletal abnormalities, including aplasia/hypoplasia of the ulnae, hypoplasia of the pelvis, aplasia/hypoplasi...

Topics

• Abnormalities, Multiple
• Consanguinity
• Femur
• Fibula
• Foot Deformities, Congenital
• Humans
• Infant
• Infant, Newborn
• Pakistan
• Pedigree
• Pelvis