Report of a new syndrome: Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes

Ghosh, Suchandra; Setty, Suhas; Sivakumar, Arunachalam; Pai, Keerthilatha M.

doi:10.1016/j.tripleo.2006.02.028

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Cited by 19 publications

(20 citation statements)

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“…Recognition of oral features of EVC syndrome is important to differentiate it from similar chondrodystrophies such as Jeune dystrophy, McKusick‐Kaufman syndrome, achondroplasia, and Weyers acrodental dysostosis …”

Section: Introductionmentioning

confidence: 99%

Ellis‐Van Creveld syndrome: dental management considerations and description of a new oral finding

Hassona

Hamdan

Shqaidef

et al. 2015

Special Care in Dentistry

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Section: Introductionmentioning

confidence: 99%

Ellis‐Van Creveld syndrome: dental management considerations and description of a new oral finding

Hassona

Hamdan

Shqaidef

et al. 2015

Special Care in Dentistry

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“…This is clinically characterized by multiple gingivolabial frenula, hypoplasia of the nasal cartilages, moderate mental retardation and fissured tongue. Ankyloglossia is found in one third of such cases [11]. 50% of patients of Ellis Van Creveld syndrome die in infancy due to thoracic dysplasia leading to respiratory insufficiency and cardiac anomalies.…”

Section: Discussionmentioning

confidence: 99%

Autopsy Findings in a Case of Ellis Van Creveld Syndrome with Review of Literature

Kar¹,

Pradhan²,

Pahi³

et al. 2014

IJCM

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Ellis Van Creveld (EVC) syndrome is one of the congenital anomalies not compatible with life. It is also known as chondroectodermal dysplasia. The most common manifestations of this syndrome are short ribs, postaxial polydactyly, growth retardation, and ectodermal and cardiac defects. It has an incidence of one in every 60,000 live births and equal sex predisposition. In our case, perinatal autopsy was performed in a stillborn baby of 32 weeks of gestation having syndactyly, polydactyly and short forearms to know the cause of death and the diagnosis emerged as EVC syndrome. It is important to diagnose EVC syndrome as it is transmitted as an autosomal recessive disorder, so genetic counseling is required to make parents aware of the risk of recurrence.

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“…Ankyloglossia is found in one third of such cases. [11] 50% of patients of Ellis Van Creveld Syndrome die in infancy due to thoracic dysplasia leading to respiratory insufficiency and cardiac anomalies. Patients who survive infancy have a normal life expectancy.…”

Section: Discussionmentioning

confidence: 99%

Ellis Van Creveld Syndrome - A perinatal autopsy case report

Pradhan¹

2013

IOSR-JDMS

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Report of a new syndrome: Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes

Cited by 19 publications

References 17 publications

Ellis‐Van Creveld syndrome: dental management considerations and description of a new oral finding

Ellis‐Van Creveld syndrome: dental management considerations and description of a new oral finding

Autopsy Findings in a Case of Ellis Van Creveld Syndrome with Review of Literature

Ellis Van Creveld Syndrome - A perinatal autopsy case report

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