Tags

Type your tag names separated by a space and hit enter

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.
Eur J Pediatr. 1986 Dec; 145(6):539-44.EJ

Abstract

Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical expression than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3816857

Citation

Meinecke, P, et al. "The Velo-cardio-facial (Shprintzen) Syndrome. Clinical Variability in Eight Patients." European Journal of Pediatrics, vol. 145, no. 6, 1986, pp. 539-44.
Meinecke P, Beemer FA, Schinzel A, et al. The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur J Pediatr. 1986;145(6):539-44.
Meinecke, P., Beemer, F. A., Schinzel, A., & Kushnick, T. (1986). The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. European Journal of Pediatrics, 145(6), 539-44.
Meinecke P, et al. The Velo-cardio-facial (Shprintzen) Syndrome. Clinical Variability in Eight Patients. Eur J Pediatr. 1986;145(6):539-44. PubMed PMID: 3816857.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. AU - Meinecke,P, AU - Beemer,F A, AU - Schinzel,A, AU - Kushnick,T, PY - 1986/12/1/pubmed PY - 1986/12/1/medline PY - 1986/12/1/entrez SP - 539 EP - 44 JF - European journal of pediatrics JO - Eur J Pediatr VL - 145 IS - 6 N2 - Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical expression than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/3816857/The_velo_cardio_facial__Shprintzen__syndrome__Clinical_variability_in_eight_patients_ L2 - http://www.diseaseinfosearch.org/result/20 DB - PRIME DP - Unbound Medicine ER -