Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

• Author(s): Sousa, SB ; Ramos, F ; Garcia, P ; Pais, RP ; Paiva, C ; Beales, PL ; Moore, GE ; Saraiva, JM ; Hennekam, RC
• Date: 2014
• Persistent ID: http://hdl.handle.net/10400.4/1925
• Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
• Subject(s): Cerebelo; Perturbações do Desenvolvimento; Ossos Faciais; Deficiência Intelectual; Megalencefalia; Malformações do Sistema Nervoso; Irmãos
• Document Type: Journal article
• Language: English
• Contributor(s): RIHUC

Description

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.