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A short rib polydactyly syndrome overlapping both lethal and nonlethal types.
Genet Couns. 2012; 23(2):231-7.GC

Abstract

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.

Authors+Show Affiliations

Istanbul Bilim University, Department of Obstetrics and Gynecology, Istanbul, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22876582

Citation

Başgül Yiğiter, A, et al. "A Short Rib Polydactyly Syndrome Overlapping Both Lethal and Nonlethal Types." Genetic Counseling (Geneva, Switzerland), vol. 23, no. 2, 2012, pp. 231-7.
Başgül Yiğiter A, Güdücü N, Kavak ZN, et al. A short rib polydactyly syndrome overlapping both lethal and nonlethal types. Genet Couns. 2012;23(2):231-7.
Başgül Yiğiter, A., Güdücü, N., Kavak, Z. N., Işçi, H., & Elçioğlu, N. (2012). A short rib polydactyly syndrome overlapping both lethal and nonlethal types. Genetic Counseling (Geneva, Switzerland), 23(2), 231-7.
Başgül Yiğiter A, et al. A Short Rib Polydactyly Syndrome Overlapping Both Lethal and Nonlethal Types. Genet Couns. 2012;23(2):231-7. PubMed PMID: 22876582.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A short rib polydactyly syndrome overlapping both lethal and nonlethal types. AU - Başgül Yiğiter,A, AU - Güdücü,N, AU - Kavak,Z N, AU - Işçi,H, AU - Elçioğlu,N, PY - 2012/8/11/entrez PY - 2012/8/11/pubmed PY - 2012/8/29/medline SP - 231 EP - 7 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 23 IS - 2 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/22876582/A_short_rib_polydactyly_syndrome_overlapping_both_lethal_and_nonlethal_types_ L2 - http://www.diseaseinfosearch.org/result/6576 DB - PRIME DP - Unbound Medicine ER -