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...

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that ...

Congenital orthopaedic disorders are not infrequent. Even though some orthopaedic disorders are immediately obvious at birth (such as congenital talipes equinovarus [CTEV]), others are not apparent or may even be hidden (such as congenital bone hypoplasia). This means that a comprehensive orthopaedic examination is of great value when screening for congenital orthopaedic disorders [7]. Congenit...

The clinical, radiological, and pathological features of the 'oligohydramnios tetrad' (Potter's facies, limb malpositions, pulmonary hypoplasia, and growth retardation) resulting from chronic amniotic fluid leakage are described in 2 infants who died of respiratory failure within 12 hours of delivery. A third infant with a partial form of the syndrome had prolonged respiratory symptoms and surv...

Poland syndrome is a rare congenital malformation. This syndrome was described in 1841 by Alfred Poland at Guy’s Hospital in London. It is characterized by hypoplasia of the breast and nipple, subcutaneous tissue shortages, lack of the costosternal portion of the pectoralis major muscle and associated alterations of the fingers on the same side. Corrective treatment of the chest and soft tissue...

Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of th...