Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 868-876

  Gripp, Karen W ^a,c   Hopkins, Elizabeth ^a   Vinkler, Chana ^b   Lev, Dorit ^b   Malinger, Gustavo ^b   Lerman Sagie, Tally ^b   Dobyns, William B ^c  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b WOLFSON MEDICAL CENTER   (Israel)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

Congenital heart disease; Hemangiomata; Syndactyly

Indexed keywords

ANAMNESIS; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COARSE FACE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CUTIS MARMORATA TELANGIECTATICA CONGENITA; DISEASE CLASSIFICATION; FEMALE; FETUS ECHOGRAPHY; FETUS MALFORMATION; GENE MUTATION; HUMAN; HYDROCEPHALUS; JOINT LAXITY; MACROCEPHALY; MACROCEPHALY CAPILLARY MALFORMATION SYNDROME; MALE; MEGALENCEPHALY POLYMICROGYRIA POLYDACTYLY HYDROCEPHALUS SYNDROME; MICROGYRIA; NEVUS FLAMMEUS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDROME DELINEATION;

CAPILLARIES; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; FEMALE; HUMANS; HYDROCEPHALUS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; POLYDACTYLY; SYNDROME;

EID: 66849115642     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32732     Document Type: Article

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