Cornelia De Lange Syndrome: A Case Report

Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus far been reported from countries outside Europe and North America. Reporting CdLS cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. Furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity

Growth Status of Iranian Children with Hemodynamically Important Congenital Heart Disease

The relationship between congenital heart disease (CHD) and growth retardation is well documented. We investigated the growth condition of Iranian children with several types of congenital heart disease (CHD) and compared it with worldwide researches. Growth condition was investigated in 469 patients with important CHD aged from 1 month to 18 years. The patients were divided into two groups; infants (aged 12 months or less), and children (1-18 yrs of age). Children with hemodynamically unimportant small VSDs or small ASDs were not studied. Other exclusion criteria were prematurity, known genetic disorders and neurologic disease affecting growthd. All patients' cardiac diagnoses were made on the basis of clinical and laboratory examinations; including electrocardiography, echocardiography, cardiac catheterization, and angiography. Body weight and height of all patients were measured using conventional methods and compared with standard growth charts. In all patients body weights and heights were significantly lower than normal population. This difference was greater in the weight of female children. Other risk factors for growth failure were large left-to-right intracardiac shunts, pulmonary hypertension and cyanosis. Iranian children with CHD have growth failure somewhat different from other countries. Lower body weights of cyanotic patients and female children indicated that these patients need more nutritional and psychosocial attention