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

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 10-14

  Sousa, Sérgio B ^a,b   Ramos, Fabiana ^a   Garcia, Paula ^a   Pais, Rui P ^a   Paiva, Catarina ^a   Beales, Philip L ^b   Moore, Gudrun E ^b   Saraiva, Jorge M ^a,c   Hennekam, Raoul C M ^d  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF COIMBRA   (Portugal)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Ataxia; Cerebellar atrophy; Cerebellar hypotrophy; Coarse facial features; Dysmorphisms; Intellectual disability; Retinal dystrophy; Short stature; Thick calvarium

Indexed keywords

ADULT; APRAXIA; ARTICLE; ATAXIA; CAMPTODACTYLY; CASE REPORT; CATARACT; CEREBELLAR HYPOTROPHY; CLINICAL FEATURE; CLINODACTYLY; COARSE FACE; DISEASE ASSOCIATION; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; FEMALE; GASTROESOPHAGEAL REFLUX; HUMAN; HYPOTROPHY; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PES EQUINOVARUS; PRIORITY JOURNAL; SEIZURE; SPASTICITY; SPEECH DISORDER; X RAY; YOUNG ADULT; BRAIN; CEREBELLUM; CHILD; CONGENITAL MALFORMATION; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; FACIAL BONE; FACIES; HAND MALFORMATION; INTELLECTUAL DISABILITY; MEGALENCEPHALY; MULTIPLE MALFORMATION SYNDROME; NERVOUS SYSTEM MALFORMATIONS; PATHOLOGY; PEDIGREE; PHENOTYPE; RADIOGRAPHY; SIBLING; SKULL; SYNDROME;

ABNORMALITIES, MULTIPLE; BRAIN; CEREBELLUM; CHILD; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; FACIAL BONES; FACIES; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MEGALENCEPHALY; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PHENOTYPE; SIBLINGS; SKULL; SYNDROME; YOUNG ADULT;

EID: 84890650636     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36235     Document Type: Article

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