Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification

Pediatric Radiology
C SergiM Schiesser

Abstract

We report a 25-week fetus with lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the US detection of a narrow chest, postaxial polydactyly of the hands, short acro-/mesomelic limbs and a ventricular septal defect. The postnatal radiographic features of the skeleton confirmed the diagnosis. Literature review of the histopathology of the physeal growth plate is contradictory, varying between retardation of the hypertrophic chondrocytes without disorganization and marked disorganization of the proliferating chondrocytes. We investigated numerous sites of the enchondral ossification and observed retardation of the physeal growth plate in all sites and retardation with pronounced disorganization of the physeal growth plate in the upper mesomelic bone segments only. These data support the concept that Ellis-van Creveld syndrome is mainly a generalized disorder of the maturation of enchondral ossification.

Citations

Jun 12, 2013·Pediatric Radiology·Oliver J MuenstererStephen Done
May 15, 2003·Journal of Medical Genetics·C A JohnsonC Sergi
Mar 2, 2012·Hand : Official Journal of the American Association for Hand Surgery·Henry J MankinCarol Ann Trahan
Jan 17, 2014·Journal of Children's Orthopaedics·Dennis S WeinerSteven Kopits
Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Dec 23, 2008·Journal of Clinical Anesthesia·Andrew I Abeles, Joseph D Tobias
Jan 5, 2011·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Jul 28, 2004·The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology·Takehito TsujiToshio Yamamoto
Feb 18, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·N Venkat-RamanC M Hall
Apr 3, 2018·Case Reports in Dentistry·Talib Amin NaqashSiripan Simasetha

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