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Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: A phenotype correlation study

โœ Scribed by Marcia A. Friedman; Nathanial Miletta; Cheryl Roe; Dongliang Wang; Bernice E. Morrow; Wendy R. Kates; Anne Marie Higgins; Robert J. Shprintzen


Book ID
116566041
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
209 KB
Volume
75
Category
Article
ISSN
0165-5876

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A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was n