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Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous
E George1, S DeSilva, E Lieber
1Department of Pediatrics and Department of Medicine, New York Methodist Hospital, Brooklyn, New York, USA. VES9003@NYP.org
Insights
Ellis van Creveld syndrome (EvC) presents with short stature, polydactyly, and heart defects. Early diagnosis and genetic testing are crucial for managing this rare condition and informing family planning.
Area of Science:
- Medical Genetics
- Pediatrics
- Clinical Dysmorphology
Background:
- Ellis van Creveld syndrome (EvC) is a rare genetic disorder characterized by specific skeletal, ectodermal, and cardiac abnormalities.
- Key features include disproportionate short stature, polydactyly (extra fingers or toes), ectodermal anomalies (like nail hypoplasia), and congenital heart defects.
Observation:
- This report details three siblings from a non-consanguineous family affected by EvC, illustrating the syndrome's varied clinical spectrum.
- The affected individuals exhibited short stature, narrow rib cages, polydactyly, and nail hypoplasia.
- Complications included early infant mortality due to respiratory failure, surgical repair of an atrial septal defect, and planned surgeries for polydactyly and neonatal teeth extraction.
Findings:
- The study highlights the significant early mortality and morbidity associated with EvC, primarily due to cardiorespiratory complications.
- The genetic basis of EvC has been localized to a gene on the short arm of chromosome 4.
- The presentation in three siblings from a non-consanguineous mating suggests parental heterozygosity for EvC.
Implications:
- Genetic testing for EvC mutations can aid in premarital counseling and prenatal diagnosis, offering crucial information for affected families.
- Understanding the genetic underpinnings and clinical manifestations is vital for improving patient management and outcomes.
- Early diagnosis through fetal ultrasonography allows for timely intervention and surgical planning.
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 non-consanguineous 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.