BACKGROUND Spasmus nutans and congenital ocular motor apraxia share clinical characteristics. However, their development in a patient with cerebellar vermian hypoplasia has not been previously described. OBJECTIVE To report spasmus nutans and congenital ocular motor apraxia in a child with cerebellar vermian hypoplasia. DESIGN Case report. SETTING Tertiary-care hospital. Patient A 7-year-...

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein, the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation, reticulate pigmentations, telangiectasia, and skeletal defects.

Seven cases of single ventricle, six cases of hypoplasia of the right heart (tricuspid atresia), and one case of hypoplasia of the left heart were investigated with reflected ultrasound. In hypoplasia of the right heart there was abnormal anterior movement of the mitral valve; in hypoplasia of the left heart, abnormal anterior movement of the tricuspid valve, and in single ventricle, similiar m...

We report two cases of pulmonary hypoplasia due to fetal ascites in symptomatic congenital cytomegalovirus (CMV) infections despite fetal therapy. The patients died soon after birth. The pathogenesis of pulmonary hypoplasia in our cases might be thoracic compression due to massive fetal ascites as a result of liver insufficiency. Despite aggressive fetal treatment, including multiple immunoglob...

We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive con...