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

C. A. Moore, David Weaver

Research output: Contribution to journalArticle

13 Citations (Scopus)

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
Pages (from-to)231-237
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume33
Issue number2
StatePublished - 1989

Fingerprint

Craniofacial Abnormalities
Arthrogryposis
Micrognathism
Facial Asymmetry
Hypertelorism
Chin
Palate
Eyelids
Intelligence
Nose
Ear

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Familial distal arthrogryposis with craniofacial abnormalities : A new subtype of type II? / Moore, C. A.; Weaver, David.

In: American Journal of Medical Genetics, Vol. 33, No. 2, 1989, p. 231-237.

Research output: Contribution to journalArticle

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