Kim et al (2007) described a Moroccan patient with 1-Alpha-Hydroxylase Deficiency born to unrelated parents.  The male patient presented at the age of 22-months with severe malnutrition, hypotonia and respiratory distress.  Physical and radiological findings were consistent with a diagnosis of severe rickets and pneumonia with pleural effusion.  He had hypocalcemia, and high concentrations of alkaline phosphatase and PTH, while level of 1,25(OH)2D was low.  He died of multiple organ failure following development of bilateral pneumothoraces.  Genetic analysis identified a novel homozygous mutation in the CYP27B1 gene.

Alzahrani et al. (2010) described a 23-year-old woman who presented at the age of 16 years with significant growth retardation, bone pain and severe deformities of lower limbs.  Her general condition gradually deteriorated over the years with impaired walking and generalized bone pain.  Her family history was positive with five of her siblings suffering a similar condition.  Her parents are first degree cousins.  The patient and her affected siblings were treated with calcitroil 0.5-1 mg twice daily and calcium carbonate 600-1200 mg twice daily.  All affected individuals in this family showed remarkable improvement with complete normalization of calcium, phosphate, alkaline phosphatase, and PTH over 2-3 years of treatment.  Molecular genetic testing identified (p.G102E) mutation in the CYP27B1 gene.

Babiker et al. (2014) reported a 13-month old Saudi girl, who presented with multiple fractures resulting from minor traumas.  The patient was born to first-cousin consanguineous parents, with no family history of a similar condition.  The clinical, biochemical, and radiological findings were consistent with previously reported cases of CYP27B1 mutations.  Radiological features were severe and included generalized osteopenia with multiple fractures.  Mutation analysis revealed a novel pathogenic mutation in the CYP27B1 gene.