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

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 1; pp. 10 - 14
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.01.2014; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple; Ataxia; Brain - pathology; cerebellar atrophy; cerebellar hypotrophy; Cerebellum - abnormalities; Child; coarse facial features; Consanguinity; Developmental Disabilities - diagnosis; dysmorphisms; Facial Bones - abnormalities; Facies; Female; Hand Deformities, Congenital - diagnostic imaging; Hand Deformities, Congenital - pathology; Humans; intellectual disability; Intellectual Disability - diagnosis; Magnetic Resonance Imaging; Megalencephaly - diagnosis; Nervous System Malformations - diagnosis; Pedigree; Phenotype; Radiography; retinal dystrophy; short stature; Siblings; Skull - diagnostic imaging; Skull - pathology; Syndrome; thick calvarium; Young Adult
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36235

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.