PMID: 9391888Dec 10, 1997

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome

Journal of Medical Genetics
M C DigilioB Dallapiccola

Abstract

We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but a correlation between the single descriptions has never been noted. CTHDs are included among the cardiac malformations characteristically associated with the group of syndromes caused by the microdeletion of chromosome 22q11, but no detectable hemizygosity has been found in our family. An autosomal recessive gene seems to be involved in syndromic patients with the combination of CTHD and microphthalmia. The map location of this gene is at present unknown, but autosomal recessive inheritance must be considered in genetic counselling of families with children presenting with this malformation complex.

Citations

Sep 1, 1978·American Heart Journal·S C BrunsonB Aftalion
Oct 1, 1992·European Journal of Pediatrics·G PacileoR Calabrò
Feb 15, 1988·The American Journal of Cardiology·M E PierpontJ E Edwards
Jan 1, 1988·American Journal of Medical Genetics·J J Nora, A H Nora
Jul 1, 1986·The American Journal of Cardiology·L H Van Mierop, L M Kutsche
Apr 15, 1994·American Journal of Medical Genetics·A J Rein, R Sheffer
Aug 1, 1993·Journal of Medical Genetics·M Warburg
Jan 1, 1997·Archives of Disease in Childhood·M C DigilioB Dallapiccola
Mar 1, 1997·Journal of Medical Genetics·M C DigilioB Dallapiccola
Mar 1, 1961·British Heart Journal·J E GOODYEAR

Related Concepts

Autosomal Chromosome Disorders
chromosome 22q11
Specimen Type - Genital
Truncus Arteriosus
Truncus Arteriosus, Persistent
Recurrent Malignant Neoplasm
Truncus Arteriosus Gene
Conotruncal Heart Malformations (Disorder)
Conditions, Recessive Genetic
Etiology

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