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Article

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2015

Alonso Nerea, Soares Dinesh C, V McCloskey Eugene, Summers Gregory D, Ralston Stuart H, Gregson Celia L

Abstract excerpt

Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive condition of congenital blindness and severe childhood osteoporosis with skeletal fragility, caused by loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. We report the first case of atypical (subtrochanteric) femoral fracture (AFF) in OPPG, occurring in a 38-year-old man within the context of...

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Source

Identifiers

PMID: 25384351
DOI: 10.1002/jbmr.2403

Genes

LRP5
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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