A severe case of mandibuloacral dysplasia in a girl.
We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. On follow-up, hands and feet showed progressive camptodactyly of fingers and toes with total loss of subcutaneous tissue. The clavicles were hypoplastic. Intelligence was normal. We review the literature on the subject and discuss differential diagnosis.
Schrander-Stumpel
C
C
Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, The Netherlands.
Spaepen
A
A
Fryns
J P
JP
Dumon
J
J
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002348:Carpal Bones / Q000002:abnormalities; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008334:Mandible / Q000002:abnormalities; D013577:Syndrome; D013639:Tarsal Bones / Q000002:abnormalities