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.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


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(per page)
PMID (PMCID)
10420199
 MIXED_SAMPLE Adult
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C.
Ophthalmic Genet. 1999;20(2):127-31.
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
10420199
 MIXED_SAMPLE Adult
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C.
Ophthalmic Genet. 1999;20(2):127-31.
We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly.
3588071
 MIXED_SAMPLE Adult
A new syndrome with ocular, skeletal and renal involvement.
Cirillo Silengo M, Lopez Bell G, Biagioli M, Guala A, Porcellini G, Franceschini P.
Pediatr Radiol. 1987;17(3):238-41.
A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described.
7252997
 MIXED_SAMPLE
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
Phillips CI, Wynne-Davies R, Stokoe NL, Newton M.
J Med Genet. 1981;18(1):46-9.
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.