This prospective study has identified a high birth prevalence of skeletal dysplasia, and risk factors are postulated. These findings represent an accurate birthprevalence figure and a useful baseline for this group of birth defects in the UAE.

Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia.

Nine thousand six hundred and ten births were prospectively studied in the three major hospitals in Al-Ain, United Arab Emirates (UAE) between October 1995 and January 1997. Babies suspected of, or diagnosed, as having central nervous system (CNS) abnormalities were evaluated by a neonatologist, a clinical geneticist and a pediatric neurologist. Brain computerized tomography/magnetic resonance imaging (CT/MRI) was performed on all babies suspected of having CNS abnormalities. In addition, metabolic screening and chromosome analysis were also performed when indicated. Of the 225 babies with congenital anomalies identified, 31 had CNS abnormalities (3.2/1000). Syndromic abnormalities of the CNS were present in 13 cases (42%), chromosomal abnormalities in one case (3.2%) and the rest included: neural tube defect (NTD) in 11 cases (36%), holoprosencephaly in two cases (6.4%) and hydrocephalus in four cases (12.9%). Detailed analysis of the syndromic types revealed that out of the 13 cases, 12 were inherited as autosomal recessive (AR) and in one case the inheritance was undetermined. Consanguinity with high level of inbreeding was present in 12 cases and the majority of the syndromes identified were extremely rare. The study indicates that CNS anomalies are fairly common in the UAE, particularly, the recessive syndromic types. Careful and detailed analysis of such anomalies is required so that accurate genetic advice can be given.

This study was conducted to determine the incidence of low birth weight (LBW) in the indigenous population of Al Ain and to identify some risk factors associated with it. The population studied included all consecutive deliveries, occurring in the 3 hospitals in Al Ain City, where almost all deliveries take place, during a 1-year period. When a LBW infant (< 2,500 g) was born, gestational age assessment was made and a questionnaire completed during an interview with the mother. For control, the first baby who weighed more than 2,500 g at birth, following the birth of a LBW was recruited. It was found that a total of 3,485 live births occurred of which 293 were classified as LBW, giving an LBW incidence of 8.4%. Of these, 73 (24.9%) were small for gestational age ( < 10th percentile for gestational age). Overall, the mothers of LBW infants were found to be statistically significantly younger in age. The mothers of LBW infants also had a significantly higher number of previous LBW deliveries, twin deliveries and a larger number of premature rupture of membranes. The factors that were not significantly different in the 2 groups were diabetes during pregnancy, chronic hypertension, preeclampsia/eclampsia, occurrence of significant infection during pregnancy, 1st and 2nd trimester bleeding, and antepartum hemorrhage. This is the first comprehensive study on the incidence of LBW infants in the United Arab Emirates. The main obstetric factors responsible for this were found to be age, number of previous LBW babies, premature rupture of membranes and multiple births.