Short rib polydactyly syndrome-Type I.
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.
Sridhar
S
S
Department of Neonatology, Christian Medical College Hospital, Vellore, Tamil Nadu, India. neonatal@cmcvellore.ac.in
Kishore
Ravi
R
Thomas
Niranjan
N
Jana
Atanu Kumar
AK
D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis*