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Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Front+Pediatr 2015 ; 3 (ä): ä Nephropedia Template TP
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Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy #MMPMID26157786
Khwaja A; Parnell SE; Ness K; Bompadre V; White KK
Front Pediatr 2015[]; 3 (ä): ä PMID26157786show ga
We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal ossification, metaphyseal cupping, and postnatal micromelia. Respiratory compromise, delayed ambulation, and progressive lower extremity deformities are described. The severity of findings is variable. Renal phosphate wasting is associated with severe bone demineralization and a more severe phenotype. This report represents the first described cases of opsismodysplasia treated with intravenous bisphosphonate (pamidronate). Surgical management for lower extremity deformities associated with OPS is also reviewed.Level of Evidence: IV Case series