We present a new case of the Baller-Gerold syndrome (BGS) in an infant with prenatally apparent severe hydrocephalus, growth retardation, and cardiac and limb abnormalities detected by ultrasound at 26 weeks of gestational age. Subsequent survival to term and neonatal examination confirmed an unsuspected diagnosis of BGS.
"Polydactyly, syndactyly, and long fingers have also been described . The cardiac defects that have been reported commonly to be associated with the syndrome are ventricular septal defect and subaortic stenosis . After extensive medline search, we could lay our hands of only 1 case of ASD reported in association with the BG syndrome . "
[Show abstract][Hide abstract] ABSTRACT: Heart hand syndromes are characterized by radial abnormalities and associated defects in the heart. We here describe an extremely rare heart hand syndrome known as Baller-Gerold syndrome.
[Show abstract][Hide abstract] ABSTRACT: Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence of affected sibs and parental consanguinity.
American Journal of Medical Genetics 02/1993; 45(4):519-24. DOI:10.1002/ajmg.1320450423 · 3.23 Impact Factor
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