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Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
Author(s) -
Sousa Sérgio B.,
Ramos Fabiana,
Garcia Paula,
Pais Rui P.,
Paiva Catarina,
Beales Philip L.,
Moore Gudrun E.,
Saraiva Jorge M.,
Hennekam Raoul C. M.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36235
Subject(s) - macrocephaly , camptodactyly , brachycephaly , short stature , clinodactyly , medicine , sister , anatomy , pediatrics , skull , sociology , anthropology
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. © 2013 Wiley Periodicals, Inc.

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