Holzgreve syndrome: recurrence in sibs

American Journal of Medical Genetics
I T ThomasC Ruiz

Abstract

We report on 2 sibs with cardiac and renal abnormalities. The first had hypoplastic left heart sequence and renal hypoplasia; the second had a complex congenital heart defect, renal agenesis, and cleft lip and palate. We suggest that these cases represent the first familial examples of the Holzgreve syndrome. As such, they demonstrate the phenotypic variability seen in sibs, and may serve to further delineate the syndrome.

References

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Citations

Dec 11, 1999·Cardiology in the Young·P D Grossfeld
Mar 26, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Martin LhuaireMarc Labrousse
Mar 29, 1996·American Journal of Medical Genetics·J ZlotogoraA I Eidelman
Aug 22, 1997·American Journal of Medical Genetics·V BriscioliV Fesslová

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