Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association

Thirumalesh, Parimala V.; Patrick, Reeba; Reddy, Srivathsa T.

doi:10.4103/mxe.mxe_25_20

Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association

Authors

Abstract

Roifman syndrome is a rare genetic disorder with a worldwide prevalence of less than 1 in 1 000 000. It is characterized by growth retardation, abnormal bone formation (spondyloepiphyseal dysplasia), retinal dystrophy with visual defects, cognitive delay, immunodeficiency, and specific phenotypical features such as microcephaly, prominent forehead, long curvy eyelashes, long philtrum, dental abnormalities, and brachydactyly. This syndrome was first reported by Dr Roifman 20 years ago and was initially thought to be X linked owing to its male preponderance. It was identified later to be an autosomal recessive genetic defect in the noncoding parts of the gene (RNA, U4atac Small Nuclear U12-Dependent Splicing). The common presentations of this syndrome are due to recurrent infections secondary to immunodeficiency. There is no documented association of vitamin D-dependent rickets with this syndrome previously mentioned in the literature. This is a clinical report of a child presenting with refractory hypocalcemia secondary to vitamin D-dependent rickets who was later diagnosed to have Roifman syndrome owing to the distinctive phenotypical features and associated immunodeficiency. This is also the first clinical report of this syndrome from India.

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