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

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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Sergi C,Voigtländer T,Zoubaa S,Hentze S,Meyberg-Solomeyer G,Troeger J,Tariverdian G,Otto HF,Schiesser M

doi

10.1007/s002470000421

keywords:

subject

Has Abstract

pub_date

2001-04-01 00:00:00

pages

289-93

issue

4

eissn

0301-0449

issn

1432-1998

journal_volume

31

pub_type

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