Early prenatal diagnosis of short rib-polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk.
Short rib-polydactyly (SRP) syndrome Type I was diagnosed accurately in an at-risk fetus at 16 weeks of gestation by real-time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and--by directed search--the polydactyly.
D000328:Adult; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis*; D014463:Ultrasonography