[Velo-cardio-facial syndrome (Shprintzen syndrome)].
A patient with the velo-cardio-facial syndrome is described. The most frequent features include cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent findings include microcephaly, mental retardation, small stature, slender hands and digits, minor auricolar anomalies, and inguinal hernia. There were four instances of familial transmission in the 39 patients of the literature.
D000015:Abnormalities, Multiple / Q000150:complications*; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D009958:Orofaciodigital Syndromes / Q000150:complications* / Q000473:pathology; D010641:Phenotype
Sindrome velo-cardio-faciale (Sindrome di Shprintzen).