Document Detail

A severe case of mandibuloacral dysplasia in a girl.
MedLine Citation:
PMID:  1642279     Owner:  NLM     Status:  MEDLINE    
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.
C Schrander-Stumpel; A Spaepen; J P Fryns; J Dumon
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  43     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1992 Jul 
Date Detail:
Created Date:  1992-08-28     Completed Date:  1992-08-28     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  877-81     Citation Subset:  IM    
Department of Clinical Genetics, Academic Hospital Maastricht, University of Limburg, The Netherlands.
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MeSH Terms
Bone Diseases, Developmental / diagnosis*
Carpal Bones / abnormalities
Diagnosis, Differential
Mandible / abnormalities
Tarsal Bones / abnormalities

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