Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face

We report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with obtuse mandibular angle, maxillary hypoplasia with beaking of the nose, aortic root dilatation, and mitral valve prolapse. This combination of findings has not been repor...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 46; no. 2; p. 138
Main Authors Stratton, R F, Garcia, P R, Young, R S, Jorgenson, R J
Format Journal Article
LanguageEnglish
Published United States 15.04.1993
Subjects
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adult
Aorta - pathology
Arm - abnormalities
Dilatation, Pathologic - genetics
Face - abnormalities
Hand Deformities, Congenital - genetics
Hand Deformities, Congenital - pathology
Humans
Intellectual Disability - genetics
Male
Mitral Valve Prolapse - genetics
Syndrome
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Summary:We report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with obtuse mandibular angle, maxillary hypoplasia with beaking of the nose, aortic root dilatation, and mitral valve prolapse. This combination of findings has not been reported previously.
ISSN:0148-7299
DOI:10.1002/ajmg.1320460207