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Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome
M C Digilio1, B Marino, A Giannotti
1Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Insights
This study identifies a rare malformation complex in siblings, featuring conotruncal heart defects and microphthalmia. Autosomal recessive inheritance is suspected, crucial for genetic counseling in affected families.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Dysmorphology
Background:
- A rare malformation complex involving conotruncal heart defects (CTHD), microphthalmia, genital anomalies, and facial dysmorphism is presented in three siblings.
- Previous reports have noted the association of CTHD and microphthalmia but not the correlation within a single family.
- The 22q11 deletion syndrome, often linked to CTHDs, was ruled out in this family.
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.