scholarly journals Neurofibromatosis

2014 ◽  
Vol 34 (1) ◽  
pp. 81-82
Author(s):  
D Sharma ◽  
S Murki ◽  
V Madhavi

Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop(1). We report a baby who was admitted with us in view of prematurity (34 weeks gestation ) and low birth weight (1.32 Kg). Baby’s  mother was antenatally diagnosed with NF 1(figure no 1,2). Baby had multiple café au lait spots all over the bodies (figure no 3,4). Baby was discharged from nursery in well condition.DOI: http://dx.doi.org/10.3126/jnps.v34i1.8535 J Nepal Paediatr Soc 2014;34(1):81-82 

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 647-648
Author(s):  
AHMAD S. TEEBI ◽  
TALAAT I. FARAG

Macrosomia together with macroglossia and omphalocele permits the recognition of Beckwith-Wiedemann syndrome which is frequently observed in sporadic occurrence and occasionally as an autosomal dominant disorder. However, macrosomia may be also a part of several clinically recognizable overgrowth syndromes such as cerebral gigantism, Smith-Marshall syndrome, and Weaver syndrome. Recently, we observed a female infant with macrosomia (birth weight 4,650 g, length 52 cm), bilateral severe microphthalmia, frequent cyanotic spells with apnea, and an early death at 43 days due to overwhelming illness.


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