Ontology highlight
ABSTRACT:
SUBMITTER: Badiner N
PROVIDER: S-EPMC5538819 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Badiner N N Taylor S P SP Forlenza K K Lachman R S RS Bamshad M M Nickerson D D Cohn D H DH Krakow D D
Clinical genetics 20170313 2
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple o ...[more]