Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 1, Pages 10-14Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36235
Keywords
intellectual disability; coarse facial features; dysmorphisms; cerebellar atrophy; cerebellar hypotrophy; ataxia; thick calvarium; retinal dystrophy; short stature
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Funding
- Fundacao para a Ciencia e Tecnologia [SFRH/BD/46778/2008]
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We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity. (c) 2013 Wiley Periodicals, Inc.
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