Articole semnate de acelasi autor in Revista Romana de Pediatrie:

PARTICULARITATI CLINICO-EVOLUTIVE INTR-UN CAZ DE SINDROM CROUZON

Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Promoting Global Health

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Aniko Maria Manea, Nicoleta Kiritescu, Dobre Mihaela and Mariana Boia

REZUMAT

Sindromul Crouzon este o boală genetică rară, cu o incidenţă între 1/25.000-1/100.000 de nou-născuţi, transmisă autozomal dominant, caracterizată prin craniosinostoză şi dismorfism facial caracteristic, putând fi diagnosticat precoce. Prezentăm cazul unui nou-născut prematur de sex feminin internat în Secţia de Neonatologie Spitalul „Louis Ţurcanu“, cu dismorfism facial marcat. Ancheta anamnestică evidenţiază faptul că mama şi sora pacientei prezintă acelaşi tip de afecţiune. Durata de viaţă în sindromul Crouzon este normală, 97% dintre ei au o inteligenţă normală. Calitatea vieţii este afectată de considerente de ordin estetic şi de severitatea anomaliilor pe care le prezintă.

Cuvinte cheie: sindrom Crouzon, gena FGFR2, craniosinostoză.

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Aniko Maria Manea

CROUZON SYNDROME – CLINICAL-EVOLUTIVE PARTICULARITIES. CASE REPORT

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

Aniko Maria Manea, Nicoleta Kiritescu, Dobre Mihaela and Mariana Boia

ABSTRACT

The Crouzon’s Syndrome is a rare genetic disorder, with an incidence between 1/25,000 to 1/100,000 newborn babies, transmitted autosomal dominant, characterized by facial dysmorphism and craniosynostosis, based on those characteristic can be diagnosed early. We present the case of a premature newborn female admitted to the Hospital Division of Neonatology “Louis Ţurcanu” with facial dysmorphism. The anamnestic investigation revealed that the patient’s mother and sister suffer from the same type of affection. The patients affected by Crouzon Syndrome have a normal lifespan, and 97% of them have a normal intelligence. The quality of their life is affected by aesthetic considerations and the severity of abnormalities they present.

Keywords: Crouzon’s Syndrome, FGFR2 gene, craniosinostosys

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Aniko Maria Manea