Başgül Yiğiter A, Güdücü N, Kavak Z N, Işçi H, Elçioğlu N
Istanbul Bilim University, Department of Obstetrics and Gynecology, Istanbul, Turkey.
Genet Couns. 2012;23(2):231-7.
Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented at the 19th week of pregnancy for amniocentesis because of maternal age. During ultrasound pre-axial synpolydacytly, a short and ovoid tibia, nuchal edema, vertebral irregularities, hypoplastic thorax with short ribs and talipes were detected. All of the extremities were under the 5th percentile. Thorax-abdomen ratio was 0,56. The family was counselled for a diagnosis of lethal SRPS. After termination of pregnancy, radiological and histopathological examination allowed us to reach the diagnosis ofMajewski syndrome (SRPS type II). SRPSs are a continuous spectrum of both lethal and nonlethal forms. Prenatal diagnosis and termination depending on ultrasound findings should be done very precociously considering different phenotypic expressions, even in families previously affected by a lethal SRPS.
II型短肋多指综合征（SRPS）是一种罕见的常染色体隐性遗传致死性骨骼发育不良，其特征为多指、四肢短小、肋骨短且水平、胫骨短而呈卵形以及主要器官异常。我们报告了一例患有II型SRPS的胎儿病例，该孕妇因年龄因素在妊娠第19周时进行羊膜穿刺术。超声检查发现胎儿存在轴前并指多指畸形、胫骨短而呈卵形、颈部水肿、椎体异常、胸廓发育不全伴肋骨短小以及足畸形。所有肢体均低于第5百分位数。胸腹部比例为0.56。对该家庭进行了致死性SRPS的诊断咨询。终止妊娠后，通过放射学和组织病理学检查确诊为马耶夫斯基综合征（II型SRPS）。SRPS是致死型和非致死型的连续谱系。即使在先前有致死性SRPS病例的家庭中，考虑到不同的表型表达，也应根据超声检查结果尽早进行产前诊断和终止妊娠。
