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Short‐rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report
Author(s) -
Meizner Israel,
Barnhard Yoni
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150713
Subject(s) - polydactyly , medicine , prenatal diagnosis , gestation , pregnancy , fetus , rib cage , obstetrics , surgery , anatomy , biology , genetics
The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second‐trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21‐year‐old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short‐rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short‐rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non‐lethal anomalies.