TY - JOUR
T1 - Variable phenotypes in velocardiofacial syndrome with chromosomal deletion
AU - Motzkin, Beth
AU - Marion, Robert
AU - Goldberg, Rosalie
AU - Shprintzen, Robert
AU - Saenger, Paul
N1 - Funding Information:
Velocardiofacial syndrome was initially described by Shprintzen et al. 1 in 1978 as a multiple malformation syndrome that included clefting of the palate, cardiac anomalies, and a characteristic facial phenotype. The most striking feature of the syndrome is the similarity in facial appearance, including prominent nose with squared nasal root and narrow alar base, relative deficiency of the malar area, vertical maxillary excess, retruded mandible, narrow palpebral fissures, and minor ear anomalies (Fig. 1). The oral manifestations consist of clefts of the secondary palate (overt, submucous, or occult submucous) and velopharyn- Supported in part by National Institutes of Health Training Grant in Investigative Endocrinology (2-T32 DK-07004-16.1 ) from the National Institute of Diabetes and Digestive and Kidney Diseases. Presented in part at the Annual Meeting, Society for Pediatric Research, Baltimore, Md., May 1992. Submitted for publication Jan. 12, 1993; accepted April 20, 1993. Reprint requests: Paul Saenger, MD, Division of Pediatric Endocrinology, Department of Pediatrics, Montefiore Medical Center, 111 E. 210th St., Bronx, NY 10467. Copyright 9 1993 by Mosby-Year Book, Inc, 0022-3476/93/$1.00 + .10 9/20/48135 geal insufficiency. Other features include slender hands and digits (63%), abundant scalp hair (>50%), conductive hearing loss caused by chronic otitis media (75%), short stature (30%), 2 and abnormalities of the eyes) The cardiovascular anomalies are conotruncal in nature and include, but are not restricted to, ventriculoseptal defect, tetralogy of Fallot, and right-sided aortic arch. 4 In addition, learning disabilities have been documented in nearly all patients with VCF. These include poor abstraction abil-
PY - 1993/9
Y1 - 1993/9
N2 - Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect and probably represent contiguous gene deletion syndromes. The association of chromosome 22q11 deletion with DiGeorge sequence led us to do molecular analysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome region 22q11. Retrospectively, we correlated the presence of the deletion with various clinical findings: 100% had cleft palate, 67% the facial phenotype, 83% cardiac disease, 94% learning disabilities, 70% ophthalmologic findings, 50% short stature, 22% psychiatric disorders, and 17% hypocalcemia. Both severely phenotypically affected and mildly affected patients had the deletion. These findings stress the importance of continued surveillance of all patients with VCF for the many medical problems that may not be present at initial diagnosis. We conclude that the presence of the gene deletion does not predict the phenotypic expression in VCF. Further studies to characterize the size of the gene deletion may facilitate better prediction of the phenotype.
AB - Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect and probably represent contiguous gene deletion syndromes. The association of chromosome 22q11 deletion with DiGeorge sequence led us to do molecular analysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome region 22q11. Retrospectively, we correlated the presence of the deletion with various clinical findings: 100% had cleft palate, 67% the facial phenotype, 83% cardiac disease, 94% learning disabilities, 70% ophthalmologic findings, 50% short stature, 22% psychiatric disorders, and 17% hypocalcemia. Both severely phenotypically affected and mildly affected patients had the deletion. These findings stress the importance of continued surveillance of all patients with VCF for the many medical problems that may not be present at initial diagnosis. We conclude that the presence of the gene deletion does not predict the phenotypic expression in VCF. Further studies to characterize the size of the gene deletion may facilitate better prediction of the phenotype.
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U2 - 10.1016/S0022-3476(05)81740-8
DO - 10.1016/S0022-3476(05)81740-8
M3 - Article
C2 - 8355116
AN - SCOPUS:0027296236
SN - 0022-3476
VL - 123
SP - 406
EP - 410
JO - The Journal of Pediatrics
JF - The Journal of Pediatrics
IS - 3
ER -