![]() This report of two unrelated infants with compound heterozygous mutations in ENPP 1 and previously published cases confirms that mild to moderate hearing loss is frequently associated with ARHR2. Both children had evidence of progressive hearing loss requiring the use of hearing aids. ![]() We report two children who presented in mid to late childhood with progressive varus deformity of their legs due to hypophosphatemic rickets caused by mutations in the ENPP 1 gene. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication rather than a part of the disease. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene ( ENPP 1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. ![]() ![]() Steichen-Gersdorf, Elisabeth Lorenz-Depiereux, Bettina Strom, Tim Matthias Shaw, Nicholas JĪutosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP 1. ![]()
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