Congenital dislocation of the hip: optimal screening strategies in 2014.

A prospective multi-centre nationwide study of patients with congenital dislocation of the hip (CDH) diagnosed after 3 months of age was conducted with support from the French Society for Paediatric Orthopaedics (Société Française d'Orthopédie Pédiatrique [SoFOP]), French Organisation for Outpatient Paediatrics (Association Française de Pédiatrie Ambulatoire [AFPA]), and French-Speaking Society for Paediatric and Pre-Natal Imaging (Société Francophone d'Imagerie Pédiatrique et Prénatale [SFIPP]). The results showed inadequacies in clinical screening for CDH that were patent when assessed quantitatively and probably also present qualitatively. These findings indicate a need for a communication and educational campaign aimed at highlighting good clinical practice guidelines in the field of CDH screening. The usefulness of routine ultrasound screening has not been established. The findings from this study have been used by the authors and French National Health Authority (Haute Autorité de Santé [HAS]) to develop recommendations about CDH screening. There is an urgent need for a prospective randomised multi-centre nationwide study, which should involve primary-care physicians.

[Phenotype of a ring-chromosome 6 carrier. Clinical and cytogenetic study]. / Phénotype d'un sujet porteur d'un chromosome 6 en anneau. Etude clinique et cytogénétique.

A ring 6 chromosome was detected in a 18 months old boy. The patient was a dwarf with psychomotor retardation, morphological anomalies i.e. microcephaly, bird head shaped facies with large ears, arched palate and micrognathia. A survey of 9 others cases collected in the medical literature permit to propose a specific phenotype for this chromosomal abnormality.

[Congenital "cardio-esophageal" syndromes. Congenital cardiopathies and multiple abnormalities syndromes in the child with esophageal abnormalities]. / Syndromes "cardio-oesophagiens" congenitaux. Cardiopathies congenitales et syndromes polymalformatifs chez les enfants atteints de malformations oesophagiennes.

A case of esophageal stenosis and tracheo-esophageal fistula associated with dextrocardia due to dextrorotation, ventricular septal defect and complete double arotic arch is reported. In 116 cases of esophageal atresia and tracheo-esophageal fistula 9 had an associated cardiac malformation (4 right-sided aortic arch and 4 ventricular septal defects). The possible individualization of multiple abnormality syndromes in which these two types of malformations are associated with others such as vertebral arch defects, limb anomalies, imperforate anus, etc. is discussed. These are so-called "Vater" or "Vactel" syndromes.