An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

Background: Chromosome 1p31 deletion (OMIM #613735) involving the NFIA gene (OMIM 600727) is characterised by variable defects in the formation of the corpus callosum, craniofacial abnormalities and urinary tract defects. A review of current literature suggests only seven cases have been reported, none of which had an isolated NFIA gene defect.

Methods: We submit the clinical and molecular features of an 8-year-old female patient with a microdeletion of chromosome 1p31.

Cochrane Review: Screening programmes for developmental dysplasia of the hip in newborn infants.

Background: Uncorrected developmental dysplasia of the hip (DDH) is associated with long-term morbidity such as gait abnormalities, chronic pain and degenerative arthritis.

Objectives: To determine the effect of different screening programmes for DDH on the incidence of late presentation of congenital hip dislocation.

Search Methods: Searches were performed in CENTRAL (The Cochrane Library), MEDLINE and EMBASE (January 2011) supplemented by searches of clinical trial registries, conference proceedings, cross references and contacting expert informants.

Screening programmes for developmental dysplasia of the hip in newborn infants.

Background: Uncorrected developmental dysplasia of the hip (DDH) is associated with long term morbidity such as gait abnormalities, chronic pain and degenerative arthritis.

Objectives: To determine the effect of different screening programmes for DDH on the incidence of late presentation of congenital hip dislocation.

Search Strategy: Searches were performed in CENTRAL (The Cochrane Library), MEDLINE and EMBASE (January 2011) supplemented by searches of clinical trial registries, conference proceedings, cross references and contacting expert informants.

Fever and urticaria in an African refugee.

An 11-year-old African refugee presented with fever and urticaria commencing 2-h after taking praziquantel. He had been well previously, and the praziquantel was given to treat a serological diagnosis of schistosomiasis. The main differential diagnosis was between acute schistosomiasis and a drug reaction.