Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies.
نویسندگان
چکیده
Short rib–polydactyly syndrome (SRPS) type II is a rare lethal form of skeletal dysplasia, characterized by polydactyly, short limbs, short and horizontal ribs, a small ovoid tibia and major organ anomalies [1]. Prenatal diagnosis by genetic testing is not available; ultrasound plays an important role. With no prior history usually these cases are detected late in pregnancy; postnatal examination helps in definitive diagnosis and genetic counseling so that the patient can come early in subsequent pregnancy for prenatal diagnosis. We report a case which was followed in three consecutive pregnancies.
منابع مشابه
Transabdominal Embryofetoscopy for the Detection of Short Rib-polydactyly Syndrome, Type II(Majewski), in the First Trimester
Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera w...
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ورودعنوان ژورنال:
- Journal of obstetrics and gynaecology of India
دوره 66 Suppl 2 شماره
صفحات -
تاریخ انتشار 2016