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332 PULMONARY DISEASE IS A COMPONENT OF DISTAL ARTHROGRYPOSIS TYPE 5.
  1. M. S. Williams
  1. Clinical Genetics Institute, Intermountain Health Care, Salt Lake City, UT; C.G. Elliott, Pulmonary Division, LDS Hospital, Salt Lake City, UT; M. Bamshad, Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT

Abstract

Purpose We report a three-generation family with distal arthrogryposis type 5 (DA5).

Methods Clinical evaluation of affected family members and review of the literature.

Results The family has four affected members in three generations with an apparent autosomal dominant pattern of inheritance. Three affected individuals were examined. All have distal joint contractures with absent flexion creases, limited mobility of all small and large joints, stance with shortened heel cords and pes cavus, short stature, decreased extraocular movements, and pectus excavatum. This pattern is consistent with DA5. The propositus has documented pulmonary hypertension secondary to chronic hypoxia from restrictive pulmonary disease. The propositus's mother died at age 50 of congestive heart failure. She was on oxygen for the last 15 years of life. No formal pulmonary function studies were done. Review of the literature reveals a family reported by Beals and Weleber (2004) with DA5. Four affected individuals in this family have documented restrictive pulmonary disease. One individual was on oxygen supplementation, but pulmonary hypertension was not documented in this family. The father in the family reported by Sack (1978) had mild dyspnea on exertion but did not report pulmonary function studies. An EKG was normal.

Conclusions Restrictive pulmonary disease is a component of DA5. This implies involvement of the diaphragm and/or intercostal muscles. All individuals diagnosed with DA5 should be evaluated for pulmonary disease as treatment of chronic hypoxia may prevent or delay pulmonary hypertension. Mapping of the gene for DA5 is under way.

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