Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating
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E. George
Abstract
The major diagnostic features of Ellis van Creveld syndrome (EvC) includes disproportionate short stature, polydactyly, ectodermal anomalies, and structural heart defects. We describe three siblings with EvC of a nonconsanguineous mating. The history of these siblings well illustrate the clinical manifestations and complications that children with EvC encounter. All three girls had short stature, narrow rib cage, polydactyly and nail hypoplasia. The first daughter died in early infancy in respiratory failure. The second daughter underwent open heart surgery for atrial septal defect repair. The third daughter, diagnosed in utero with fetal ultrasonography, currently is scheduled for surgical excision of extra-digits and extraction of neonatal teeth. Infant mortality rates among patients with EvC is strikingly high due primarily to cardiorespiratory failure. If they survive infancy morbidity is significant. The gene effected in individuals with EvC has recently been identified on the short arm of chromosome 4. Future testing for gene mutations may provide valuable information for premarital counseling and prenatal diagnosis. Three offspring with disproportionate short stature, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for Ellis van Creveld syndrome.
Copyright (c)2000 by Walter de Gruyter GmbH & Co. KG
Articles in the same Issue
- Author Index
- Subject Index
- Contents
- Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating
- Effect of maternal weight gain on infant birth weight
- Neonatal echocardiograms of macrosomic neonates
- Effects of surfactant treatment on gas-exchange and clinical course in near-term newborns with RDS
- Adolescent pregnancy: positive perinatal outcome at a community hospital
- Prostaglandin induced cortical hyperostosis in neonates with cyanotic heart disease
- Management of cervical cerclage at term: remove the suture in labor?
- Expedited human immunodeficiency virus testing of mothers and new-borns with unknown HIV status at time of labor and delivery
- The pathogenesis of pre-eclampsia: new aspects
- Peripartum hysterectomy
- Wishes and expectations of pregnant women and their partners concerning delivery
- Prevalence and risk factors for prelabor rupture of the membranes (PROM) at or near term in an urban Swedish population
- “Shake hands”; Diagnosing a floppy infant – Myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis
- Effect of corticosteroids on HELLP syndrome: a case report
Articles in the same Issue
- Author Index
- Subject Index
- Contents
- Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating
- Effect of maternal weight gain on infant birth weight
- Neonatal echocardiograms of macrosomic neonates
- Effects of surfactant treatment on gas-exchange and clinical course in near-term newborns with RDS
- Adolescent pregnancy: positive perinatal outcome at a community hospital
- Prostaglandin induced cortical hyperostosis in neonates with cyanotic heart disease
- Management of cervical cerclage at term: remove the suture in labor?
- Expedited human immunodeficiency virus testing of mothers and new-borns with unknown HIV status at time of labor and delivery
- The pathogenesis of pre-eclampsia: new aspects
- Peripartum hysterectomy
- Wishes and expectations of pregnant women and their partners concerning delivery
- Prevalence and risk factors for prelabor rupture of the membranes (PROM) at or near term in an urban Swedish population
- “Shake hands”; Diagnosing a floppy infant – Myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis
- Effect of corticosteroids on HELLP syndrome: a case report
