Upper limb mesomelic dysplasia

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

Fibular aplasia

Absence of the fibula.


Total: 1

                       


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PMID (PMCID)
9128926
 OTHER Infant, Newborn
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.
Kumar D, Duggan MB, Mueller RF, Karbani G.
Am J Med Genet. 1997;70(2):107-13.
All children have a similar pattern of skeletal abnormalities, including aplasia/hypoplasia of the ulnae, hypoplasia of the pelvis, aplasia/hypoplasia of the femora, fibular aplasia, and variable digital abnormalities and absent/dysplastic nails.