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Helger Yntema

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

SINDROMUL LEOPARD. CAZURI FAMILIALE

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Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

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SINDROMUL LEOPARD. CAZURI FAMILIALE

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REZUMAT

Sindromul LEOPARD este o afecţiune ce include multiple anomalii dismorfogenetice. Sindromul LEOPARD, ca şi sindromul Noonan, este determinat de mutaţii ale genei PTPN11. Autorii menţionează particularităţile diagnostice la 2 cazuri înrudite cu dismorfism facial. Cazul index este reprezentat de băiat de 10 ani evaluat pentru dis morfism cranio-facial asociat cu retard mental. Antecedente heredo-colaterale: fără consangvinitate; tatăl pa cientului şi soră cu dismorfism facial. Examenul clinic: retard staturo-ponderal, pistrui axilari, pete café- au-lait diseminate, dismorfism facial, pterigium coli, anomalii scheletice, retard mental. Investigaţiile sangvine şi eco-cardiografia: fără modificări. Pentru diagnosticul diferenţial s-au considerat sindroamele Noonan, Greig, neuro fibromatoza tip 1, sindromul Mc Cune-Albright. Evaluarea genetică: cariotip normal; secvenţierea genei PTPN11 a relevat mutaţia ce confirmă sindromul LEOPARD. Analiza genetică a relevat aceeaşi mutaţie la tatăl pa ci entului. Concluzii. Autorii au descris 2 cazuri familiale cu craniu dismorf, anomalii scheletice, pigmentaţia pielii, dizabilităţi mentale şi statură mică, justificând evaluarea genetică care a identificat o afecţiune genetică foarte rară.

Cuvinte cheie: sindromul Leopard, copil

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LEOPARD SYNDROME. FAMILIAL CASES

SELECT ISSUE

Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014
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
Scopus
NLM Catalog
Ebsco Host - Medline
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

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.

LEOPARD SYNDROME. FAMILIAL CASES

, , and

ABSTRACT

LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with facial dysmorphism. Index case is represented by a 10 year-old boy admitted for evaluation because of cephalofacial dysmorphism associated with mental disabilities. Family history: non-consanguineous parents; the father’s case and his sister with face dysmorphism. Clinical exam: short stature, impaired nutritional status, axillary freckles, widespread café-au-lait spots, face dysmorphism, webbed neck, skeletal anomalies and mental retardation. Blood investigations and cardiac ultrasonography: no anomalies. Differential diagnosis includes Noonan syndrome, Greig syndrome, type 1 neurofibromatosis, Albright syndrome. Regarding patient genetic evaluation: normal karyotype; DNA sequencing revealed mutation in PTPN11 gene suggestive for LEOPARD syndrome. Authors also found same mutation for probant’s father. Conclusions. Authors described two cases with dysmorphic skull, skeletal anomalies, skin pigmentation, mental disabilities and short stature, justifying further genetic evaluation that revealed a very rare disorder.

Keywords: Leopard syndrome, child

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