Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

Journal of medical genetics ·Vol. 28 ·No. 9 ·1991-09-00 ·Pages 596-604

Lipson AH, Yuille D, Angel M, Thompson PG, Vandervoord JG, Beckenham EJ

Abstract

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a relatively low incidence of clefting, good response to pharyngoplasty, considerable variability of the syndrome, and two further familial cases. We emphasise the low index of suspicion by paediatricians and paediatric subspecialists which resulted in delayed diagnosis and delayed treatment for the hypernasal speech and velopharyngeal insufficiency for periods of four months to seven years.

MeSH Terms

Abnormalities, Multiple/pathology Adolescent Adult Child Child, Preschool Cleft Palate/complications,pathology,surgery Diseases in Twins Face/abnormalities Female Heart Defects, Congenital/pathology Humans Infant Male Speech Disorders/etiology,surgery Syndrome Velopharyngeal Insufficiency/complications,pathology,surgery

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Lipson A H

Cleft Palate Clinic, Children's Hospital, Sydney, NSW, Australia.

Yuille D

Angel M

Thompson P G

Vandervoord J G

Beckenham E J

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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.28.9.596

Published

1991-09-00

Pages

596-604

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1015789

Subset

External Links

PubMed source DOI: 10.1136/jmg.28.9.596 PMC Full Text View journal details

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Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

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