Article
Mandibuloacral dysplasia: a report of two Egyptian cases.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2005
Afifi H H, El-Bassyouni H T
Abstract excerpt
Mandibuloacral dysplasia (MAD) is a rare disorder. Only 35 patients, coming from 22 families, have been reported worldwide. We report on two Egyptian unrelated girls with MAD. The first patient presented at the age of 5 years with acral defect and partial alopecia. The second patient presented at the age of 17 years with progressive micrognathia and loss of subcutaneous fat from the limbs. Physical examination...
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