title: Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
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.
authors: Sérgio B
authors: SB
authors: Sousa
authors: Fabiana
authors: F
authors: Ramos
authors: Paula
authors: P
authors: Garcia
authors: Rui P
authors: RP
authors: Pais
authors: Catarina
authors: C
authors: Paiva
authors: Philip L
authors: PL
authors: Beales
authors: Gudrun E
authors: GE
authors: Moore
authors: Jorge M
authors: JM
authors: Saraiva
authors: Raoul C M
authors: RC
authors: Hennekam
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D003241:Consanguinity; D002658:Developmental Disabilities / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D058627:Megalencephaly / Q000175:diagnosis*; D009421:Nervous System Malformations / Q000175:diagnosis*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D035781:Siblings; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome; D055815:Young Adult