An Investigation Into Short Rib-Polydactyly Syndrome (SRPS)

作者：Padmini M Pramila^*; Rao B Narasinga; Rao R Ramana

来源：Journal of the Anatomical Society of India, 2009, 58(1): 29-34.

• Skeletal dysplasia
• short rib-polydactyly syndrome (SRPS)

Short rib-polydactyly syndrome (SRPS) is a lethal descriptive category or a group of skeletal dysplasias characterized by hypoplastic thorax, short ribs, polydactyly and visceral abnormalities.
Classically, four different types have been described: SRPS I (Saidino-Noonan); SRPS II (Majewski); SRPS III (Verma-Naumoff); and SRPS IV (Beemer-Langer). All forms of the SRPS described to date are thought to be inherited in an autosomal recessive manner. There are difficulties in the classification of these disorders because of the frequent overlap. There is controversy, however, as to whether this is due to variable expression or to genetic heterogeneity(Yang SS (1991), Sarafoolou K (1999), Elcioolu N ( 1996). The present case is a stillborn foetus with CRI-of 41 cms with a gestational age of 40 wks-whose radiological, clinical and postmortem features were consistent with SRPS I I (Majewski type). A case of stillbirth in a preterm male foetus in which multiple skeletal and extraskeletal malformations were encountered in this rare case under study. The skeletal changes included extremely short horizontal ribs, micromelia and polydactyly of both hands and feet. Extraskeletal manifestations included a cleft lip; lowset and deformed ears; hypoplastic lungs, auricular hypertrophy of the heart, hypertrophied left lobe of liver, External genitalia were ambiguous but both testes were palpable. The investigations include ultrasonography, skiagram of foetus and histological study of affected organs.

• 出版日期2009-6
• 单位河北医科大学