Familial distal arthrogryposis with craniofacial abnormalities: A new subtype of type II?

C. A. Moore, D. D. Weaver

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.

Original languageEnglish (US)
Pages (from-to)231-237
Number of pages7
JournalAmerican journal of medical genetics
Volume33
Issue number2
DOIs
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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