The Ellis van Creveld Syndrome

Anna Zwierzyńska; Grzegorz Świercz; Mariola Głowacka; Jakub Gruszka; Olga Adamczyk-Gruszka

doi:10.19251/pwod/2023.3(1)

eISSN: 2544-2538
ISSN: 2450-8624

Pielęgniarstwo w Opiece Długoterminowej / Long-Term Care Nursing

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3/2023
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abstract:

Case report

The Ellis van Creveld Syndrome

Anna Zwierzyńska

¹

,

Grzegorz Świercz

²

,

Mariola Głowacka

³

,

Jakub Gruszka

⁴

,

Olga Adamczyk-Gruszka

⁵

Collegium Medicum, Uniwersytet Jana Kochanowskiego w Kielcach, Polska
Klinika Położnictwa i Ginekologii, Wojewódzki Szpital Zespolony, Kielce, Polska
Collegium Medicum, Wydział Nauk o Zdrowiu. Katedra Zintegrowanej Opieki Medycznej, Zakład Pielęgniarstwa,, Akademia Mazowiecka w Płocku, Polska, Polska
II Katedra i Klinika Położnictwa i Ginekologii, Wydział Lekarski, Warszawski Uniwersytet Medyczny, Polska
Katedra Ginekologii i Położnictwa, Collegium Medicum, Uniwersytet Jana Kochanowskiego w Kielcach, Polska

Long-Term Care Nursing 2023; 8 (3): 3-7

DOI: https://doi.org/10.19251/pwod/2023.3(1)

Online publish date: 2023/11/02

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Introduction
Ellis van Creveld Syndrome is a rare genetic disorder. It takes the form of chondroectodermal dysplasia with a characteristic clinical manifestation. Incidence of the disease is 7 / 1,000,000. The characteristic symptoms include disproportionately shortness of stature, hexadactyly in the hands, less often in the feet ; ectodermal dysplasia affecting nails, hair, teeth; congenital heart defects (mitral and tricuspid valve defects; patent ductus arteriosus, ventricular/atrial septal defect); cavities in the oral cavity (mal-occlusion, adhesions and gingival hypertrophy, frenulum hypertrophy, enamel hypoplasia). The vast majority of cases of the disease concern people with mutations within the EVC or EVC 2 gene, located at the 4p 16.2 locus. It is much more common in the Amish community.

Aim
The article presents a case of a patient with EVC.

Clinical case
During the prenatal diagnosis, performed on the 22 1/7 hbd, the child was diagnosed with extra – axial polydactyly on both feet. He was diagnosed with a congenital heart defect - a patent foramen ovale. In the case described, numerous changes in the oral cavity were found.

Discussion and conclusions
The patient described is also part of the typical clinical manifestation of the disease, but some symptoms may appear in later years. It is necessary to closely monitor the development of this child.

keywords:

The Ellis van Creveld Syndrome

Anna Zwierzyńska 1 , Grzegorz Świercz 2 , Mariola Głowacka 3 , Jakub Gruszka 4 , Olga Adamczyk-Gruszka 5

birth defects, genetic diseases, EVC, prenatal tests

Anna Zwierzyńska

¹

,

Grzegorz Świercz

²

,

Mariola Głowacka

³

,

Jakub Gruszka

⁴

,

Olga Adamczyk-Gruszka

⁵