Orofaciodigital syndrome with mesomelic limb shortening.

AUTOR(ES)

Burn, J

RESUMO

Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.

Documentos Relacionados

• A male with type I orofaciodigital syndrome.
• Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
• The energy liberation of frog skeletal muscle in tetanic contractions containing two periods of shortening.
• Orofaciodigital syndrome type III in two sibs.
• Two brothers with heart defects and limb shortening: case reports and review.