Short rib polydactyly syndrome - type 2 (Majewski).
Short rib polydactyly syndromes (SRPS) are a group of inherited autosomal recessive skeletal dysplasias. It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement. We report a case of SRPS-2 in a fresh stillborn and discuss the differential diagnosis.
Nair
Vrinda
V
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India. nairvrinda@hotmail.com
Prakash
K L
KL
Bhat
B Vishnu
BV
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis*; D050497:Stillbirth