Two children with neurofibromatosis type 1 who presented at birth with congenital pseudarthrosis of the u

Fetus in fetu is an unusual digression from the normal twinning process which often presents as a mass in

This report describes an 8-year-old boy with congenital hereditary downbeat nystagmus, the youngest perso

Congenital smooth muscle hamartoma (CSMH) with follicular spotted appearance is a rare clinical variant o

A 21-year-old primigravida in her 20th week of pregnancy developed TTP. She was managed with weekly or se

Untreated vertically transmitted human immunodeficiency virus (HIV) infection progresses rapidly with 50%

We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanni

A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination

2-ketoglutarate dehydrogenase (KGD) deficiency is a rare disorder of the tricarboxylic acid cycle. To dat

Juvenile papillomatosis (JP) is a breast tumor of young women featuring atypical papillary duct hyperplas