Congenital anomalies in infants with congenital hypothyroidism: is it a coincidental or an associated finding?

During the period between December 1988 and February 1995, a total of 279,482 newborn infants were screened in the regional neonatal screening program for congenital hypothyroidism (CH) in Riyadh province, Saudi Arabia. Eighty-one infants were confirmed to have CH giving an incidence of 1 in 3,450. Variable congenital anomalies, other than those of the thyroid gland, were present in 16 (19.8%). The anomalies most frequently encountered were congenital heart defects (7), unclassified multiple congenital anomalies (5) and Down's syndrome (2). The results of our study confirm this association, and emphasize the need to search for such anomalies in infants born with CH. Nationwide studies, however, on birth defects in the general population and those associated with CH are still needed to help us understanding the role of local genetic and environmental factors.

Acrorenal syndrome associated with visual defect.

The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously.

Classification of hand anomalies in Apert's syndrome.

The literature states that all patients with Apert's syndrome should have complex (osseous) syndactyly of the index, middle and ring fingers. We describe a case of Apert's syndrome with simple syndactyly and recommend extending the classification of hand anomalies in Apert's syndrome.

Determinants of term intrauterine growth retardation: the Saudi experience.

In a clinical study from an unselected Saudi obstetric population, the incidence of and risk factors for intrauterine growth retardation among live births were investigated. From a total study group of 4578 consecutive live births, 76 (1.7%) infants were found to be growth retarded. These infants were then compared with a randomly selected control group of 76 term newborns with appropriate birthweight for their gestational ages. Delivery at term of a growth-retarded infant was significantly associated with maternal age under 20 years, maternal body mass index less than 23, first degree consanguinity, poor housing, primiparity, and inadequate prenatal care in univariate analysis. When considered jointly in multivariate logistic regression analysis, the significant determinants were reduced to primiparity, first degree consanguinity, and poor housing. These risk factors correctly predicted 63% and 71% of the intrauterine growth-retarded infants or normal birthweight infants, respectively.

PIP: In Saudi Arabia, physicians compared data on 76 term intrauterine growth retardation (IUGR) infants with data on 76 randomly selected term newborns of appropriate birth weight to study the determinants of term IUGR. The term IUGR rate was 1.7% (76/4578 consecutive live births). The univariate analysis found significant risk factors to be a maternal age of less than 20 years (odds ratio [OR] = 4.89), a maternal body mass index of less than 23 (OR = 2.86), first degree consanguinity (OR = 3.1), living in a mud house (OR = 5.10), primiparity (OR = 3), and inadequate prenatal care (OR = 2.86). A stepwise multiple logistic regression model revealed that the significant risk factors of term IUGR included primiparity (OR = 3.3), first degree consanguinity (OR = 3.4), and living in a mud house (OR = 7.5). These three risk factors correctly predicted 63% and 71% of the IUGR and normal-birth-weight infants, respectively. These findings suggest that health care providers may be able to identify pregnancies at risk of IUGR and can thus prevent and manage IUGR births.

Down's syndrome in Saudi Arabia: incidence and cytogenetics.

A study has been carried out in Riyadh to determine the incidence and distribution of Down's syndrome births during a 9-year period from July 1982 to June 1991. Down's syndrome was ascertained in 42 (23 females and 19 males) of 23,261 consecutive babies born alive to Saudi women, giving an incidence of 1 in 554 live births (1.8 per 1,000). A trend towards an increased incidence of Down's syndrome with advanced maternal age or increased maternal parity was found. Cytogenetic studies were performed on 37 cases of which all but 1 were non-disjunction trisomy 21, while the remaining infant had a translocation. This study provides the first step for further epidemiological surveys of Down's syndrome in the Kingdom of Saudi Arabia in order to prepare the ground for an effective antenatal screening programme for chromosomal disorders.

Prevalence of intestinal parasites in Saudi children: a community-based study.

A community-based study was undertaken to determine the prevalence and types of intestinal parasites in the pediatric population of Al-Baha region, Saudi Arabia. Stool samples were randomly collected from 19,939 children of whom 4208 (21.1%) were found to harbour intestinal parasites. The most affected age group was 5-9 years and the sex distribution was almost equal in all age groups. Specific prevalence rates were Giardia lamblia 9 per cent, entamoeba histolytica 5 per cent, Hymenolepis nana 2 per cent, and Enterobius vermicularis 2 per cent. The findings of this survey confirm the extremely complex nature of parasitic profile in developing communities, and indicate that relationships exist between cultural and ecological factors, sanitation, and observed pattern of intestinal parasites.

Glucose-galactose malabsorption with renal stones in a Saudi child.

A case of glucose-galactose malabsorption in an 18-month-old Saudi girl is presented. She had associated bilateral renal stones with impaired renal function. Dietary therapy improved her malabsorption and the renal stones were cleared by extracorporeal shortwave lithotripsy.