A New Case of HDR Syndrome With Severe Female Genital Tract Malformation: Comment on 'Novel Mutation In the Gene Encoding the GATA3 Transcription Factor In a Spanish Familial Case of Hypoparathyroldlsm, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations11 by Hernandez et al.

摘要

We read with interest the report by Hernandez et al. [2007] of a Spanish familial case (mother and daughter) of hypoparathyroid-ism, sensorineural deafness, and renal anomaly (HDR) syndrome with female genital tract malformation. The mother had nonfunctional right kidney and septate uterus, whereas the daughter had right renal agenesis and uterus didelphys with septate vagina. To our knowledge, this was the only case of female genital tract malformation associated with HDR syndrome reported in the literature.