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2015 ; 3
(ä): 48
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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): 48
PMID26157786
show 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.