Leopard syndrome: a report of five cases from one family in two generations.
Eur J Pediatr
; 173(6): 819-22, 2014 Jun.
Article
en En
| MEDLINE
| ID: mdl-24401936
ABSTRACT
UNLABELLED This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different phenotypes and a variable expression of multiple lentigines. The diagnosis may be on clinical basis as the diagnostic clues of LS are multiple lentigines and cafè-au-lait-spots, short stature, distinctive face, congenital heart disease, conduction abnormalities, abnormal genitalia, and sensorineural deafness. CONCLUSION:
the clinical diagnosis of LS should be molecularly confirmed in the patient.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndrome LEOPARD
/
Proteína Tirosina Fosfatasa no Receptora Tipo 11
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
País como asunto:
Europa
Idioma:
En
Año:
2014
Tipo del documento:
Article