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Am J Med Genet A ; 164A(1): 10-4, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24501761

ABSTRACT

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.


Subject(s)
Cerebellum/abnormalities , Facial Bones/abnormalities , Intellectual Disability/diagnosis , Megalencephaly/diagnosis , Nervous System Malformations/diagnosis , Siblings , Abnormalities, Multiple , Brain/pathology , Child , Consanguinity , Developmental Disabilities/diagnosis , Facies , Female , Hand Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/pathology , Humans , Magnetic Resonance Imaging , Pedigree , Phenotype , Radiography , Skull/diagnostic imaging , Skull/pathology , Syndrome , Young Adult
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