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Background: Caudal regression syndrome (CRS) is a congenital heterogeneous constellation of caudal anomalies that include varying degrees of agenesis of the spinal column, anorectal malformations (ARMs), genitourinary anomalies, and pulmonary hypoplasia. The combination of a particular form of hemisacrum, ARM, and presacral mass (teratoma, anterior meningocele, rectal duplication, or a combination thereof) constitutes Currarino syndrome (CS). Previous reports have shown HLXB9 to be a major causative gene for CS. The aim of our study was to reevaluate the involvement of the HLXB9 gene in a larger group of CRS cases., Methods: SSCP analysis was performed on a series of 48 CRS cases without CS. A case-control approach was used to test whether an alteration of the length of the GCC triplets in exon 1 of the HLXB9 gene could contribute to CRS risk., Results: No pathological variants of the HLXB9 gene were identified by mutational analysis. We also found no evidence that the length of the GCC triplets had any effect on the CRS risk, even when the allelic frequencies were stratified according to the presence or absence of ARMs and the type of sacral agenesis., Conclusions: We confirmed that the HLXB9 gene is not involved in the pathogenesis of CRS, and to date is known as a causative gene only for CS., (Copyright 2006 Wiley-Liss, Inc.)

Background: In hyperthyroidism-complicated pregnancies, medical therapy is necessary to reach an euthyroid condition, and propylthiouracil (PTU) or methimazole (MMI) are used. These drugs are equally effective, but may cause fetal and neonatal hypothyroidism because they freely cross the placenta. Although PTU has not been significantly associated with embryo-fetal anomalies, it has been suggested that MMI might be responsible for a specific embryopathy., Case(s): Two cases of major congenital anomalies after MMI exposure during pregnancy are reported., Conclusions: PTU should be the drug of choice, and the use of MMI should be restricted to cases with allergic reactions, intolerance, or poor response to PTU., (Copyright 2003 Wiley-Liss, Inc.)

Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been demonstrated to cause two distinct subtypes of the disorder. We describe a case of thanatophoric dysplasia type I diagnosed at 18 weeks of gestation by ultrasonography. Genomic DNA obtained by chorionic villus sampling showed a C to G substitution at position 746 in the FGFR3 gene, resulting in a Ser249Cys substitution already known to be associated with type I disease. Implications for perinatal management are discussed., (Copyright 2000 John Wiley & Sons, Ltd.)