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Updated: Aug 24, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
Short rib polydactyly syndrome-Type I
S Sridhar1, Ravi Kishore, Niranjan Thomas
1Department of Neonatology, Christian Medical College Hospital, Vellore, Tamil Nadu, India. neonatal@cmcvellore.ac.in
Abstract:
Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography.
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