Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.
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ABSTRACT:
SUBMITTER: Ajmi H
PROVIDER: S-EPMC6372401 | biostudies-literature | 2015 Sep-Dec
REPOSITORIES: biostudies-literature
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Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.
Ajmi Houda H Ruiz Perez Victor L VL Hassayoun Saida S Mabrouk Sameh S Mahdoui Sana S Boughzela Essia E Zouari Noura N Abroug Saoussan S
International journal of pediatrics & adolescent medicine 20150901 3-4
Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure. On clinical examination, he presented with typical features of EvC, cyanosis and dyspnea. EvC was confirmed by genetic tests, and echocardio ...[more]
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Project description:Ellis-van Creveld syndrome is a rare autosomal-recessive disorder characterized by short limbs, post-axial polydactyly, ectodermal dysplasia, edentulous mandibular incisor region, absence of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches. The clinical report not only describes the classical oral and dental manifestations of Ellis-van Creveld syndrome but also presents unusual findings such as single-rooted and funnel-shaped primary first molars, single conical roots of primary second molars and taurodontisum, which must be considered in the differential diagnostic criteria to avoid misdiagnosis of syndromes. The article also discusses the differential diagnosis and preventive and therapeutic oral health care for these patients. The management of Ellis-van Creveld syndrome is multidisciplinary and, therefore, the oral health care provider should get updated with latest knowledge for timely referral to prevent the patient from further complications of heart defect and bony deformity.
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