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A three generation family with fibrodysplasia ossificans progressiva.

ABSTRACT: A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is the first well documented three generation family with this condition and provides further evidence for autosomal dominant inheritance. A wide range of phenotypic severity is apparent, from disabling ectopic bone formation and premature death to an asymptomatic adult with characteristic big toe malformations.

SUBMITTER: Connor JM

PROVIDER: S-EPMC1016500 | biostudies-other | 1993 Aug

REPOSITORIES: biostudies-other

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A three generation family with fibrodysplasia ossificans progressiva.

Connor J M JM Skirton H H Lunt P W PW

Journal of medical genetics 19930801 8

A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is the first well documented three generation family with this condition and provides further evidence for autosomal dominant inheritance. A wide range of phenotypic severity is apparent, from disabling ectopic bone formation and premature death to an asymptomatic adult with characteristic big toe malformations. ...[more]

PMID: 8411056

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