Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip.

Developmental dysplasia of the hip (DDH) is a congenital condition characterized by abnormality in acetabulum size and/or shape. The incidence rate of DDH differs between different populations with risk factors including positive family history, breech presentation, sex, firstborn status, side of the hip, mode of delivery and oligohydramnios. It is recognized that DDH has a genetic component that exhibit autosomal dominant patterns.

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Correction to: Journal of Human Genetics (2016) 61, 229-33 https://doi.org/10.1038/jhg.

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. A homozygous frameshift mutation in LARP7, a chaperone of the noncoding RNA 7SK, was discovered in patients from a single consanguineous Saudi family.

An inborn error of metabolism presenting as hypoxic-ischemic insult.

This case report profiles two children whose sole presentation is intractable seizures. The index case is a 1-year-old female. She presented to the emergency department with intractable seizures.