Retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Bowed humerus

A bending or abnormal curvature of the humerus.


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PMID (PMCID)
16770799
 MIXED_SAMPLE Adult
A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.
Megarbane A, Ghanem I, Waked N, Dagher F.
Am J Med Genet A. 2006;140(14):1491-6.
This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso-lumbar scoliosis, biconcave vertebral bodies of the thoraco-lumbar spine, and narrowed lumbar canal.