Familial mandibuloacral dysplasia.
A family is described in which two sisters and their two female fifth-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. Furthermore, in this family alopecia and loss of the lower teeth were noted. We stress the importance of the cutaneous alterations and the possible existence of partial froms of the disease as in one of the patients presented.
D000328:Adult; D000505:Alopecia / Q000235:genetics*; D005260:Female; D006801:Humans; D008334:Mandible / Q000002:abnormalities*; D008875:Middle Aged; D010375:Pedigree; D012871:Skin Diseases / Q000235:genetics; D013577:Syndrome; D014080:Tooth Exfoliation / Q000235:genetics*