Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1299-1306

  Lehman, Anna M ^a   McFadden, Deborah ^a   Pugash, Denise ^a   Sangha, Karan ^a   Gibson, William T ^a   Patel, Millan S ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Cardiac defects; CNS malformations; Congenital hydronephrosis; Facial anomalies; Neuroepithelial tumors; Severe developmental delay; Skeletal dysplasia; Ventriculomegaly; Wide and dense bone cortices

Indexed keywords

ACROCALLOSAL SYNDROME; ANTERIOR FONTANEL; ARTICLE; AUTOPSY; BRAIN MALFORMATION; CASE REPORT; CEREBRAL VENTRICULOMEGALY; CONGENITAL HEART MALFORMATION; CORTICAL BONE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FOREHEAD; HERITABILITY; HUMAN; HYDRONEPHROSIS; HYPERTELORISM; HYPERTRICHOSIS; INFANT; LONG BONE; MACROGLOSSIA; MALE; MIDFACE HYPOPLASIA; NECK MALFORMATION; NEUROEPITHELIOMA; PANCREAS MALFORMATION; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; RIB MALFORMATION; SHORT NOSE; SKULL BASE; SURVIVAL; TRISOMY 13;

ABNORMALITIES, MULTIPLE; ADULT; AUTOPSY; BONE AND BONES; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; HYDRONEPHROSIS; INFANT, NEWBORN; MALE; PANCREAS; SPLEEN; SYNDROME;

EID: 43049127458     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32277     Document Type: Article

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