Literature DB >> 6535135

[Velo-cardio-facial syndrome (Shprintzen syndrome)].

R Domenici, M L Giovannucci Uzielli, E Lapi, S Castelli.   

Abstract

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.

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Year:  1984        PMID: 6535135

Source DB:  PubMed          Journal:  Pediatr Med Chir        ISSN: 0391-5387


  1 in total

1.  [Small deletion--large effect].

Authors:  K Lüerssen; M Pruggmayer; M Ptok
Journal:  HNO       Date:  2004-03       Impact factor: 1.284

  1 in total

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