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An autosomal dominant disorder characterized by brachydactyly, short metacarpals, hypoplastic ulnar side hand distal phalanges, and normal stature.

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Brachydactyly, Combined types B and E. Brachydactyly Ballard type.

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One family with dominant inheritance of this subtype of brachydactyly described 12 members of 4 generations. The syndrome is named after the affected family.

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Members of this family have shortened metacarpals and metatarsals IV and V. In addition, broadened thumbs were described in some family members, as well as distorted fingernails on the affected fingers. Hypoplasia of the distal phalanges of the ulnar side is also seen. There were no other abnormalities.

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No anesthetic implications arise from the described features. However, the presence of brachydactyly is significant because of its association with other syndromes, such as Albright hereditary osteodystrophy and Turner syndrome. Thus, if brachydactyly is found, a thorough clinical examination looking for other malformations, which might have specific implications for anesthesia, is warranted.

Pitt P, Williams I: A new brachydactyly syndrome with similarities to Julia Bell types B and E. J Med Genet 22:202, 1985.  [PubMed: 4009643]

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