TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.

Objective: The aim of this study was to document the association between pancreatic agenesis or hypoplasia and multicystic renal dysplasia related to transcription factor 2 (TCF2) or hepatocyte nuclear factor 1 beta mutations.

Methodology: We describe the phenotype of the pancreas and the kidneys from three fetuses heterozygous for a mutation of TCF2.

Cases: Case 1 had bilateral hyperechogenic, multicystic kidneys, bilateral clubfoot and pancreatic agenesis.

Direct neurectomy of the motor branches of the tibial nerve in hemiplegic adults: an assessment with a mean follow-up period of 11 years.

Introduction: Neurectomy of the tibial nerve plays a major role in the relief of disabling spasticity, which is refractory to drug treatment and physiotherapy. Although the immediate postoperative results are generally satisfactory, few evaluations of the procedure's long-term efficacy have been published.

Objective: To estimate the long-term efficacy of total or partial neurectomy of the motor branches of the tibial nerve (combined with additional orthopaedic surgery in some cases).

Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.

We report the prenatal diagnosis of a mosaic 45,X/46,X,r(X)/46,XX foetus after amniocentesis for maternal second-trimester serum screening. Biparental contribution for the X chromosomes suggest the postzygotic formation of the X ring. The ring is tiny but contains the X-inactive-specific transcript gene (XIST).

Prenatal diagnosis of mosaic tetrasomy 8p.

Tetrasomy 8p is a rare chromosomal disorder that has only been detected in a mosaic form. At the present time, 11 cases have been reported; their phenotype included agenesis of the corpus callosum, enlarged ventricles, minor facial dysmorphism, rib and vertebral anomalies, and mild to moderate developmental delay. To the best of our knowledge, tetrasomy 8p has never been prenatally diagnosed.