Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of alpha-dystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (CMD) and severe mental retardation.

A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype.

Background: Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype.

Case: A 29-year-old woman decided to terminate her unwanted pregnancy because of ill health, as she had conceived soon after her last delivery by cesarian section.

Misdiagnosing esophageal perforation as esophageal atresia.

We report a case of traumatic perforation of esophagus misdiagnosed as esophageal atresia in a 1.7 kg preterm (28 weeks) twin. Initial resistance to the passage of orogastric tube and failure of passage of contrast material down the esophagus prompted the diagnosis of esophageal atresia.

Adolescent rickets in Saudi Arabia: a rich and sunny country.

In this retrospective study from Saudi Arabia, which is a rich and sunny country, we report our experience with 34 adolescents (20 females, 10 males) with rickets. The commonest cause was vitamin D deficiency (58.8%) followed by rickets due to low calcium intake (11.