U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Short-rib thoracic dysplasia 10 without polydactyly

MedGen UID:
865521
•Concept ID:
C4017084
•
Finding
Synonym: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
 
OMIM®: 607386

Professional guidelines

PubMed

Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.
Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Recent clinical studies

Etiology

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428Free PMC Article
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF
Am J Med Genet A 2020 Oct;182(10):2403-2408. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61781. PMID: 32783357
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.
Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Diagnosis

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428Free PMC Article
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF
Am J Med Genet A 2020 Oct;182(10):2403-2408. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61781. PMID: 32783357
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O
Eur J Med Genet 2017 Dec;60(12):658-666. Epub 2017 Sep 12 doi: 10.1016/j.ejmg.2017.08.019. PMID: 28870638
Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.
Dugoff L, Coffin CT, Hobbins JC
Ultrasound Obstet Gynecol 1997 Oct;10(4):269-71. doi: 10.1046/j.1469-0705.1997.10040269.x. PMID: 9383879

Clinical prediction guides

Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...