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Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation. 1998

L M Hill, and J Leary
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, School of Medicine, PA 15213, USA.

Short-rib polydactyly dysplasia (SRP) is an autosomal recessive, lethal skeletal dysplasia. Sonographic assessment of subsequent pregnancies is, therefore, recommended. This case indicates that this diagnosis can be made in the latter part of the first trimester. A 30-year-old multigravid woman presented at 13 weeks' gestation for an ultrasound examination. She had had a termination of pregnancy for a fetus with pathologically confirmed short-rib polydactyly dysplasia, type I (Saldino-Noonan). On transvaginal sonography, a narrow chest, symmetrical micromelia, polydactyly and anasarca were present. An autopsy confirmed recurrent SRP. Short-rib polydactyly dysplasia may be diagnosed with transvaginal sonography in the first trimester.

UI MeSH Term Description Entries
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D005260 Female Females
D005865 Gestational Age The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated from the onset of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. It is also estimated to begin from fertilization, estrus, coitus, or artificial insemination. Embryologic Age,Fetal Maturity, Chronologic,Chronologic Fetal Maturity,Fetal Age,Maturity, Chronologic Fetal,Age, Embryologic,Age, Fetal,Age, Gestational,Ages, Embryologic,Ages, Fetal,Ages, Gestational,Embryologic Ages,Fetal Ages,Gestational Ages
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012779 Short Rib-Polydactyly Syndrome A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly. Majewski Syndrome,Saldino-Noonan Syndrome,Asphyxiating Thoracic Dystrophy 3,Polydactyly With Neonatal Chondrodystrophy, Type I,Polydactyly With Neonatal Chondrodystrophy, Type II,Polydactyly with Neonatal Chondrodystrophy, Type 1,Polydactyly with Neonatal Chondrodystrophy, Type 2,Short Rib-Polydactyly Syndrome Type 1,Short Rib-Polydactyly Syndrome, Majewski Type,Short Rib-Polydactyly Syndrome, Saldino-Noonan Type,Short Rib-Polydactyly Syndrome, Type I,Short Rib-Polydactyly Syndrome, Type II,Saldino Noonan Syndrome,Short Rib Polydactyly Syndrome,Short Rib Polydactyly Syndrome Type 1,Short Rib Polydactyly Syndrome, Majewski Type,Short Rib Polydactyly Syndrome, Saldino Noonan Type,Short Rib Polydactyly Syndrome, Type I,Short Rib Polydactyly Syndrome, Type II,Short Rib-Polydactyly Syndromes
D016216 Ultrasonography, Prenatal The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease. Fetal Ultrasonography,Prenatal Diagnosis, Ultrasonic,Ultrasonography, Fetal,Diagnosis, Prenatal Ultrasonic,Diagnosis, Ultrasonic Prenatal,Prenatal Ultrasonic Diagnosis,Prenatal Ultrasonography,Ultrasonic Diagnosis, Prenatal,Ultrasonic Prenatal Diagnosis,Diagnoses, Prenatal Ultrasonic,Diagnoses, Ultrasonic Prenatal,Prenatal Diagnoses, Ultrasonic,Prenatal Ultrasonic Diagnoses,Ultrasonic Diagnoses, Prenatal,Ultrasonic Prenatal Diagnoses

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