The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. [ncbi.nlm.nih.gov]

stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of 20x. [order.radboudumc.nl]

From Genetics associated with mutations in LRP5 gene ( low density lipoprotein receptor-related protein-5) Clinical-manifestations short stature osteoporosis spontaneous fractures kyphoscoliosis hyperextensible joints microcephaly normal intelligence [anvita.info]

Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. [orpha.net]

Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. [uniprot.org]

We present three novel homozygous LRP5 mutations found in 3 unrelated Turkish children with consanguineous parents, along with clinical phenotypes and response to treatment with bisphosphonates (bisP). [ncbi.nlm.nih.gov]

Conclusion: We report three novel LRP5 mutations in 3 Turkish patients with OPPG. [karger.com]

The mutation was present in the heterozygous state in the patients’ parents and was absent on 100 chromosomes from healthy Turkish controls. [nature.com]

METHODS: Three children (ages 9 to 11 years) with osteoporosis pseudoglioma syndrome who had multiple vertebral collapse were treated over a 2-year period with intermittent intravenous bisphosphonate infusions (pamidronate in 2, clodronate in 1). [ncbi.nlm.nih.gov]

Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. [ghr.nlm.nih.gov]

Showing of 23 Percent of people who have these symptoms is not available through HPO Absent anterior chamber of the eye 0008037 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Blindness 0000618 Cataract Clouding of the [rarediseases.info.nih.gov]

They presented in infancy with visual impairment and psychomotor retardation. [ncbi.nlm.nih.gov]

Most patients with OPPG are blind by 15 years of age; however, this patient’s visual impairment only caused mild functional compromise. [bone-abstracts.org]

We sequenced the coding exons of LRP5 in 37 probands suspected of having OPPG on the basis of the co-occurrence of severe congenital or childhood-onset visual impairment with bone fragility or osteoporosis recognized by young adulthood. [unboundmedicine.com]

impairment (97.9% **) WES Mendelian inherited disorders (97.9% **) WES renal disorders (97.9% **) WES short stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of 20x. [order.radboudumc.nl]

There is also intellectual and speech delay, short stature, but no hearing impairment. His mother is currently 5 months pregnant and has been counselled that future children have a 25% chance of being affected with OPS. [bjo.bmj.com]

KEYWORDS: Bisphosphonate; Bone; LRP5; OPPG; Osteoporosis-pseudoglioma; Osteoporosis-pseudoglioma syndrome [ncbi.nlm.nih.gov]

Gene LRP5 gene, 11q13.1 (OMIM gene/locus number *603506 ) Phenotype Blindness, microphthalmia, vitreoretinal abnormalities, cataract, phthisis bulbi, absent anterior eye chamber, iris atrophy, pseudoglyoma, muscle hypotonia, obesity, mental retardation [iofbonehealth.org]

University, Angers, France c Rheumatology department, Angers Teaching Hospital, 49933 Angers cedex 9, France d Paris Descartes University, Rheumatology A department, Cochin Hospital, APHP, Paris, France e U.V.S.Q University, Biochemistry, hormonology [em-consulte.com]

University, Angers, Francey department, Angers Teaching Hospital, 49933 Angers cedex 9, Francees University, Rheumatology A department, Cochin Hospital, APHP, Paris, Francersity, Biochemistry, hormonology and molecular genetics department, Ambroise Par [docslide.com.br]

Clement- Lacroix P, Ai M, Morvan F, Roman-Roman S et al. (2005) Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice. [link.springer.com]