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May 1990

Picture of the Month

Author Affiliations

Contributed from the Division of Genetics, Department of Pediatrics, Vanderbilt University School of Medicine (Dr Butler), and Vanderbilt University Hospital (Dr Wadlington), Nashville, Tenn.

Am J Dis Child. 1990;144(5):577-578. doi:10.1001/archpedi.1990.02150290071031

Denouement and Discussion 


Manifestations  Acrodysostosis is characterized by peripheral dysostosis, common craniofacial features, skeletal abnormalities, and mental retardation.The craniofacial abnormalities include brachycephaly, prominent forehead, broad nasal bridge, nasal and maxillary hypoplasia, short upturned nose, apparent ocular hypertelorism, epicanthal folds, delayed eruption of teeth, and hypodontia.Skeletal abnormalities are the most consistent findings. Peripheral dysostosis, hyperplasia of the big toe, and advanced skeletal maturation occur in most patients. Also present are short limbs, short and broad hands with wrinkling of the dorsal skin, cone-shaped epiphyses that fuse prematurely, and various vertebral abnormalities, the most common one being decreased interpedicular distance. Approximately one third of the patients have

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