Abstract
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.
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References
Saldino RM, Noonan CD. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities. Am J Roentgen 1972; 114: 257–26.
Verma IC, Bhargava S, Agarwal S. An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowin, rhizoacromelic type of micromelia, polydactyly and genital anomalies. Birth Defects Orig Art Ser 1975; XI: 167–174.
Naumoff P, Young LW, Mazer J, Amortegui AJ. Short-ribpolydactyly syndrome type III. Radiology 1977; 122: 443–447.
Jones KL. Smith’s Recognizable Patterns of Human Malformation, 5th ed. Philadelphia; WB Saunders Company, 1997; 334–336.
Silengo MC, Bell GL, Biagioli M, Franceschini P, Oro-facial-digital syndrome II: transitional type between the Mohr and the Majewski syndromes: report of 2 new cases. Clin Genet 1987; 31: 331–336.
Turkman M, Temocin K, Acar C. Short rib polydactyly syndrome: A case report. Turk Pediatr 2003; 45: 359–362.
Urioste M, Martinez-Frias ML, Bermejo E, Jimenez N, Romero D, Nieto C, Villa A. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am J Med Genet 1994; 49: 94–97.
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Nair, V., Prakash, K.L. & Bhat, B.V. Short rib polydactyly syndrome — Type 2 (Majewski). Indian J Pediatr 74, 1029–1031 (2007). https://doi.org/10.1007/s12098-007-0189-5
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DOI: https://doi.org/10.1007/s12098-007-0189-5