Literature DB >> 3995791

Velo-cardio-facial syndrome presenting as holoprosencephaly.

J E Wraith, M Super, G H Watson, M Phillips.   

Abstract

A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo-cardio-facial syndrome, an autosomal dominant disorder. The association between holoprosencephaly and this condition has not been previously reported. When holoprosencephaly is found associated with congenital heart disease, velo-cardio-facial syndrome should be sought in other family members.

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Year:  1985        PMID: 3995791     DOI: 10.1111/j.1399-0004.1985.tb02284.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  13 in total

Review 1.  Velocardiofacial syndrome.

Authors:  A C Pike; M Super
Journal:  Postgrad Med J       Date:  1997-12       Impact factor: 2.401

2.  Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Authors:  M Münke; D C Page; L G Brown; B A Armson; E H Zackai; M T Mennuti; B S Emanuel
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

3.  Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.

Authors:  E W Chow; D J Mikulis; R B Zipursky; L E Scutt; R Weksberg; A S Bassett
Journal:  Biol Psychiatry       Date:  1999-11-15       Impact factor: 13.382

4.  Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

Authors:  Marcia A Friedman; Nathanial Miletta; Cheryl Roe; Dongliang Wang; Bernice E Morrow; Wendy R Kates; Anne Marie Higgins; Robert J Shprintzen
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2011-07-18       Impact factor: 1.675

Review 5.  Phenotype of adults with the 22q11 deletion syndrome: A review.

Authors:  E Cohen; E W Chow; R Weksberg; A S Bassett
Journal:  Am J Med Genet       Date:  1999-10-08

Review 6.  Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

Authors:  A H Lipson; D Yuille; M Angel; P G Thompson; J G Vandervoord; E J Beckenham
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

7.  The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.

Authors:  P Meinecke; F A Beemer; A Schinzel; T Kushnick
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

Review 8.  Velo-cardio-facial syndrome: 30 Years of study.

Authors:  Robert J Shprintzen
Journal:  Dev Disabil Res Rev       Date:  2008

Review 9.  Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Authors:  S Demczuk; A Lévy; M Aubry; M F Croquette; N Philip; M Prieur; U Sauer; P Bouvagnet; G A Rouleau; G Thomas
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

10.  Semilobar holoprosencephaly with 21q22 deletion: an autopsy report.

Authors:  Saumyaranjan Mallick; Shasanka Shekhar Panda; Ruma Ray; Rashmi Shukla; Madhulika Kabra; Ramesh Agarwal
Journal:  BMJ Case Rep       Date:  2014-03-13
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