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Heleen Arts

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ

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REZUMAT

Sindromul Bardet-Biedl (transmitere autozomal-recesivă) este caracterizat prin obezitate, degenerescenţă retiniană, polidactilie şi retard mental. Autorii prezintă demersul diagnostic la un sugar cu paratrofie, polidactilie şi hipogenitalism.

Cuvinte cheie: sindrom Bardet-Biedl, paratrofie, polidactilie

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BARDET-BIEDL SYNDROME – CASE PRESENTATION

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

ICMJE- Recommendations

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

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

BARDET-BIEDL SYNDROME – CASE PRESENTATION

, , and

ABSTRACT

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.

Keywords: Bardet-Biedl syndrome, obesity (overweight), polydactyly

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