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

M C Digilio,A Giannotti,B Dallapiccola,B Marino

doi:10.1136/jmg.34.11.927

M C Digilio, A Giannotti + Show 2 more

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https://doi.org/10.1136/jmg.34.11.927

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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...

Highlights

Case reportsThe infant, a female, was born by caesarean section at 38 weeks of gestation
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
To our knowledge, the combination of truncus arteriosus (TA) and microphthalmia has been previously reported in two sibships, independently described as affected by a new genetic condition.'[3 14] microphthalmia associated with tetralogy of Fallot has been noted in an additional family.'[5] The major clinical findings of these patients are summarised in table 1

Summary

Case reports

The infant, a female, was born by caesarean section at 38 weeks of gestation. Ultrasound examination in the 18th week of pregnancy indicated retarded fetal growth and cardiac malformation was diagnosed in the 20th week. The pupillary light reactions were normal, the anterior chambers were shallow, and the optic discs were pale. Echocardiography showed tetralogy of Fallot and cerebral ultrasound examination indicated periventricular leucomalacia. Renal ultrasonography showed an ectopic right kidney and a normal left kidney. Chromosomal analysis on peripheral lymphocytes showed a normal female karyotype. Slight thrombocytopenia, ranging from 70-85 x 10/1, was detected in the first week of life. Owing to the detection of thrombocytopenia, histological examination of spinal bone marrow was performed and showed normal quantitative representation of all cellular maturation stages

FAMILY HISTORY

TF TA TA

Findings

Discussion