A rare cause of benign ventriculomegaly with associated syringomyelia: BRESEK/BRESHECK syndrome. Case illustration

Journal of Neurosurgery

Volumn 105 PEDIATRICS, Issue SUPPL. 2, 2006, Pages 155-

  Tumialán, Luis M ^a,b   Mapstone, Timothy B ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY CLINIC   (United States)

Author keywords

BRESEK BRESHECK; Hydrocephalus; Pediatric neurosurgery; Syringomyelia

Indexed keywords

ANAMNESIS; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL FEATURE; CRYPTORCHISM; DISEASE ASSOCIATION; EAR MALFORMATION; ECTODERMAL DYSPLASIA; EYE DISEASE; EYE HYPOPLASIA; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HEARING IMPAIRMENT; HIRSCHSPRUNG DISEASE; HUMAN; KARYOTYPE 46,XY; KIDNEY DYSPLASIA; KIDNEY HYPOPLASIA; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION; SYRINGOMYELIA; X CHROMOSOME LINKED DISORDER; AORTA COARCTATION; BRAIN VENTRICLE; CONGENITAL MALFORMATION; HEART SEPTUM DEFECT; ICHTHYOSIS; INFANT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; AORTIC COARCTATION; CEREBRAL VENTRICLES; HEART SEPTAL DEFECTS, ATRIAL; HIRSCHSPRUNG DISEASE; HUMANS; ICHTHYOSIS; INFANT; MALE; SYNDROME; SYRINGOMYELIA;

EID: 33748543608     PISSN: 00223085     EISSN: 00223085     Source Type: Journal    
DOI: None     Document Type: Article

References (1)

1. Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA: Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia BRESEK/BRESHECK: new X-linked syndrome? Am J Med Genet 68:386-390, 1997