SELECT ISSUE

Indexată BDI | IDB Indexed
![]() | |
![]() |
|
![]() |
HIGHLIGHTS
Publicarea de articole științifice
Stimați cititori, vă reamintim că autorii primi ai articolelor științifice pot acumula 80 de credite EMC în urma publicării. Dacă un articol are mai mulți autori, cele 80 de credite [...]
RJP și SRPed oferă anual Premiul Național pentru Știință și Cercetare - pentru autorii celor mai bune articole științifice publicate [...]
Tema plagiatului este tot mai mult discutată în ultima vreme. Apariția unor programe performante de căutare și identificare a similitudinilor între texte [...]
LEOPARD SYNDROME. FAMILIAL CASES
Sorin Ioan Iurian, Han Brunner, Helger Yntema and Bogdan Mehedintu
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