Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
نویسندگان
چکیده
منابع مشابه
Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.11.927