Agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21

Clinical Dysmorphology

Volumn 15, Issue 3, 2006, Pages 149-151

  Murphy, Anne Marie ^a   Brenner, Clare ^a   Ann Lynch, Sally ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Corpus callosum agenesis; Dorsal interhemispheric cyst; Hepatic vascular malformation; Notch pathway; Trisomy 21

Indexed keywords

AMOXICILLIN;

ALERTNESS; ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DOWN SYNDROME; HEAD CIRCUMFERENCE; HEPATOMEGALY; HUMAN; HYDRAMNIOS; IRRITABILITY; LIMB MOVEMENT; LIVER HEMANGIOMA; MALE; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NEWBORN PERIOD; OUTCOME ASSESSMENT; PREGNANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SKIN EXAMINATION; TRISOMY 21; URINARY TRACT INFECTION; BRAIN; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; CORPUS CALLOSUM; CYST; GENETICS; HEMANGIOMA; INFANT; KARYOTYPING; LIVER TUMOR; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

ABNORMALITIES, MULTIPLE; BRAIN; CORPUS CALLOSUM; CYSTS; DOWN SYNDROME; HEMANGIOMA; HEPATOMEGALY; HUMANS; INFANT; KARYOTYPING; LIVER NEOPLASMS; MAGNETIC RESONANCE IMAGING; MALE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33748150427     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000198933.16953.db     Document Type: Article

References (5)

1. Barkovich AJ, Simon EM, Walsh CA (2001). Callosal agenesis with cyst. A better understanding and new classification. Neurology 56:221-227.
2. Fischer DF, van Dijk R, Sluijs JA, Nair SM, Racchi M, Levelt CN, et al. (2005). Activation of the Notch pathway in Down syndrome: cross-talk of Notch and APP. Faseb J 19:1451-1458.
3. Lasky JL, Wu Hong (2005). Notch signalling, brain developmental and human disease. Pediatr Res 57:104-109.
4. Lena G, van Claenberg F, Genitori L, Choux M (1995). Supratentorial interhemispheric cysts associated with callosal agenesis: surgical treatment and outcome in 16 children. Child's Nerv Syst 11:568-573.
5. Karsan A (2005). The role of notch in modelling and maintaining the vasculature. Can J Physiol Pharmacol 83:14-23.