KBG syndrome associated with periventricular nodular heterotopia

Clinical Dysmorphology

Volumn 19, Issue 3, 2010, Pages 164-165

  Oegema, Renske ^a   Schot, Rachel ^a   De Wit, Marie Claire Y ^a   Lequin, Maarten H ^a   Oostenbrink, Rianne ^a   De Coo, Irenaeus F M ^a   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRACHYCEPHALY; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FACE DYSMORPHIA; HUMAN; KBG SYNDROME; MACRODONTIA; NEUROLOGIC EXAMINATION; PERIVENTRICULAR HETEROTOPIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROGNATHIA; SCHOOL CHILD; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; PERIVENTRICULAR NODULAR HETEROTOPIA; PREGNANCY; SYNDROME; TOOTH;

EID: 77953543944     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283387b3b     Document Type: Article

References (4)

1. Andrade D (2009). Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet 126:173-193.
2. Brancati F, Sarkozy A, Dallapiccola B (2006). KBG syndrome. Orphanet J Rare Dis 1:50.
3. Kumar H, Prabhu N, Cameron A (2009). KBG syndrome: review of the literature and findings of 5 affected patients. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 108:e72-e79.
4. Skjei KL, Martin MM, Slavotinek AM (2007). KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Gen Part A 143A:292-300.