Campomelic dysplasia: case report and review
- Select a language for the TTS:
- UK English Female
- UK English Male
- US English Female
- US English Male
- Australian Female
- Australian Male
- Language selected: (auto detect) - EN
Play all audios:

ABSTRACT Initial ultrasound of a fetus in the third trimester demonstrated shortened and bent fetal extremities with a narrow and misshapen thorax. These findings were suggestive of a fetus
affected with a possible lethal skeletal dysplasia. Decisions regarding antepartum, intrapartum and neonatal care were made in this context. A newborn with campomelic dysplasia was delivered
and suffered a rapid downhill course. Access through your institution Buy or subscribe This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through
your institution Subscribe to this journal Receive 12 print issues and online access $259.00 per year only $21.58 per issue Learn more Buy this article * Purchase on SpringerLink * Instant
access to full article PDF Buy now Prices may be subject to local taxes which are calculated during checkout ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions *
Read our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS PRENATAL DIAGNOSIS OF FETAL SKELETAL ANOMALIES VIA WHOLE-EXOME SEQUENCING IN A TERTIARY REFERRAL CENTER
Article Open access 09 November 2024 A NOVEL _FLNA_ VARIANT IN A FETUS WITH SKELETAL DYSPLASIA Article Open access 13 December 2022 UNCLASSIFIABLE SHORT-RIB THORACIC DYSPLASIA DIAGNOSED
USING TARGETED GENE PANEL SEQUENCING Article Open access 03 December 2024 REFERENCES * Urioste M, Arroyo A, Martinez-Frias ML . Campomelia, polycystic dysphasia and cervical lymphocele in
two sibs. _Am J Med Genet_ 1991; 41: 475–477. Article CAS Google Scholar * Superti-Furga A, Unger S, The Nosology Group of the International Skeletal Dysplasia Society. International
Nosology and Classification of Skeletal Disorders—2006 Revision. _Am J Med Genet A_ 2007; 143A: 1–18. Article Google Scholar * Brook CG, de Vries BB . Skeletal dyplasias. _Arch Dis Child_
1998; 79: 285–289. Article CAS Google Scholar * Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC . _Prenatal Diagnosis of Congenital Anomalies_. Appleton & Lange: East Norwalk, CT,
1988. Google Scholar * Zervoudakis IA, Strongin MJ, Schrotenboer KA . Diagnosis and management of fetal osteogenesis imperfecta congenital in labor. _Am J Obstet Gynecol_ 1978; 121:
116–119. Article Google Scholar Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Newark Beth
Israel Medical Center, Newark, NJ, USA M Gimovsky, E Rosa, T Tolbert, G Guzman, M Nazir & K Koscica Authors * M Gimovsky View author publications You can also search for this author
inPubMed Google Scholar * E Rosa View author publications You can also search for this author inPubMed Google Scholar * T Tolbert View author publications You can also search for this author
inPubMed Google Scholar * G Guzman View author publications You can also search for this author inPubMed Google Scholar * M Nazir View author publications You can also search for this
author inPubMed Google Scholar * K Koscica View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to M Gimovsky. RIGHTS AND
PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Gimovsky, M., Rosa, E., Tolbert, T. _et al._ Campomelic dysplasia: case report and review. _J Perinatol_ 28, 71–73
(2008). https://doi.org/10.1038/sj.jp.7211875 Download citation * Received: 02 April 2007 * Revised: 10 October 2007 * Accepted: 15 October 2007 * Published: 31 December 2007 * Issue Date:
January 2008 * DOI: https://doi.org/10.1038/sj.jp.7211875 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable
link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * skeletal dysplasia * campomelic dysplasia
* prenatal care