cartilage hair hypoplasia (chh), is a rare cause of metaphyseal chondrodysplasia and short stature. other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (hirschsprung disease, celiac, …) and increased risk of cancer. the disease is an autosomal recessive disorder and previously has not been reported in iran. we report a 9-year-old boy diagnosed as carti...

OBJECTIVE To examine the relation between a characteristic form of left ventricular dysfunction in the fetus and abnormalities of the aortic valve and endocardial fibroelastosis of the left ventricle. DESIGN A retrospective study to examine the correlation between echocardiographic findings in the fetus and postnatal or necropsy findings. SETTING Tertiary referral centre for fetal echocardi...

OBJECTIVE Patients with complex congenital heart disease, characterized by right ventricle hypoplasia, had a palliative surgical option with one and a half ventricular repair. METHODS From July 2001 to March 2009, nine patients (mean age 5.2 years, range 3 to 9 years) with hypoplastic right ventricle, underwent correction with one and a half ventricle technique. Preoperative diagnoses include...

Case presentation: Six-year-old, female, daughter of nonconsanguineous parents, with normal neuropsychomotor development until her first year, posterior developmental regression. At the age 2, she started having absence seizures, evolving to generalized tonic-clonic seizures. Her phenotype exhibits a triangular face, prognathism, hypertrophic gums, and accelerated growth. Additional tests: elev...

Mandibular coronoid aplasia is defined as the absence of process and hypoplasia defective or underdeveloped process. Hypoplasia mandibular condyle means that smaller than normal. Both these situations are very rare in literature. In literature, condylar usually associated with hyperplasia seen together. The case report we prepared a unilateral hypoplasia, which not syndrome, second literature t...

Dexamethasone (Dex) treatment during a critical period of lung development causes lung hypoplasia in infant rats. However, the effects of Dex on the pulmonary circulation are unknown. To determine whether Dex increases the risk for development of pulmonary hypertension, we treated newborn Sprague-Dawley rats with Dex (0.25 microg/day, days 3-13). Litters were divided equally between Dex-treated...

This study aimed to demonstrate that congenital diaphragmatic hernia (CDH) results in vascular abnormalities that are directly associated with the severity of pulmonary hypoplasia and hypertension. These events increase right ventricle (RV) afterload and may adversely affect disease management and patient survival. Our objective was to investigate cardiac function, specifically right ventricula...

When most of the centers in India do not entertain the patients with hypoplastic left heart syndrome, the original authors of the article in the present issue should be congratulated for the attempt of treating this patient with hybrid procedure. It’s a spectacular beginning. The development of staged reconstructive surgery for hypoplastic left heart syndrome (HLHS) by Norwood and colleagues in...

BACKGROUND Definition and management of right dominant unbalanced atrioventricular septal defect (AVSD) remains challenging because unbalance entails a spectrum of left heart hypoplasia. Previous work has highlighted atrioventricular valve (AVV) index as a reasonable defining echocardiographic measure. We sought to assess which additional echocardiographic features might provide further charact...

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but the syndrome exists whenever these three features are found. A...