Pattern of central nervous system anomalies in a population with a high rate of consanguineous marriages.

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.

Further delineation of Nevo syndrome.

Nevo syndrome is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Four children from two families have been reported previously. We report two further children from two unrelated Arab families from two different tribes. Both presented at birth with hypotonia, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Both have delayed motor development at the ages of 2 years 10 months and 3 months respectively. Cognitive development is normal in one, and the other case appears to be developing normally at 3 months of age. One has, in addition, a wide spinal canal on MRI of the spine indicating some degree of dural ectasia. This report brings the total number of children reported with this syndrome to six from four families; three of these families are Arab. This indicates that the gene for this syndrome is probably commoner in Arabs than in other populations.

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 children affected with severe neonatal SJS. All presented after birth with skeletal abnormalities and feeding difficulties. Five had the typical pursed appearance of the mouth. Nine died from respiratory complications (five in the neonatal period and four before 2 years of age). One (4 months old) remains hospitalised since birth requiring continuous oxygen supplementation and one (5 months old) requires nasogastric tube feeding and has repeated attacks of aspiration. Only seven of the 17 previously reported neonatal SJS cases had a similar course to the patients in this report. We suggest that within neonatal SJS there is a subgroup which manifests severe respiratory and feeding problems and has a poor prognosis. This report brings the total number of children with neonatal SJS reported from the UAE to 14. This represents the largest review of this syndrome to date from one centre and indicates that this syndrome is fairly common in the population of the UAE.

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.

A simple 'tally sheet' system for collecting information on the paediatric utilisation of a western Cape day hospital.

This paper describes a simple 'tally sheet' system for collecting information on the paediatric utilisation of Bishop Lavis Day Hospital. of 2,053 children seen over a 7-week period in August and September 1988, the details of 1,971 (96%) were entered on the tally sheets; age and weight were documented in 1,915 (97%) cases. Only 19 patients (1%) were neonates, 370 (19%) were aged under 1 year, 1,092 (57%) 1-6 years and 453 (24%) 6-13 years. One hundred and ninety-eight children (10%) had a weight for age less than the 3rd percentile and 646 (34%) a weight between the 3rd and 25th percentiles; 505 (26%) were between the 25th and 50th percentiles and 566 (30%) above the 50th percentile. Nursing personnel alone saw and treated 1,067 (52%) of the children and the commonest conditions treated were upper respiratory tract infections (31%) and infective and non-infective skin conditions (18%). A similar system could be used to evaluate other aspects of health care.