1.
Indian Pediatr
;
2001 Oct; 38(10): 1148-54
Article
in English
| IMSEAR
| ID: sea-11185
Subject(s)
Child, Preschool , Female , Glutarates/urine , Humans , Infant , Magnetic Resonance Imaging , Male , Metabolism, Inborn Errors/diagnosis
2.
Indian Pediatr
;
2001 Mar; 38(3): 297-300
Article
in English
| IMSEAR
| ID: sea-7010
3.
J Postgrad Med
;
2000 Apr-Jun; 46(2): 98-100
Article
in English
| IMSEAR
| ID: sea-115148
ABSTRACT
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.