Familial mandibuloacral dysplasia

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Abstract
A family is described in which 2 sisters and their 2 female 5th cousins were cases of mandibuloacral dysplasia. This syndrome is characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated terminal club-shaped phalanges associated with acroosteolysis and atrophy of the skin over hands and feet. In this family alopecia and loss of the lower teeth were noted. The importance of the cutaneous alterations is stressed and the possible existence of partial forms of the disease as in one of the patients is presented.

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