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M Y el-Khalifa

Publications and source records attributed to M Y el-Khalifa.

12 recordsLinked to original sources
PubMed1993

Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

In this preliminary report we summarize the results of a 4-year multidisciplinary systematic, etiological clinicogenetic survey of 400 institutionalized mentally retarded patients in Kuwait. All had an intelligence quotient below 50. A constitutional disorder, as the direct cause of the mental retardation, was found in 203 patients (50.75%)): a chromosomal abnormality in 37 (9.25%), Mendelian disorders in 137 (34.25%), MCA/MR in 22 (5.55%) and CNS malformations in 7 cases (1.75%). In 157 patients (39.35%) a pre-, peri or postnatal cause was ascertained. No etiological diagnosis was detected in 40 patients (10%). A detailed analysis of the "disease profile" is given and compared with the results of previous diagnostic genetic surveys among different institutionalized mentally retarded populations in Western and developing countries.

Abnormalities, Multiple↗
PubMed1991

Human homologue for the mouse mutant disorganisation: does it exist?

We describe a newborn Arab male with defects similar to those seen in mice heterozygous for the mutant disorganisation (DS) gene. He had complete absence of the left lower limb including the left pelvic bone, hamartomas arising from the abdominal wall, a small penis, absent left half of the scrotal sac, absent left testicle, anterior displacement of the anus, and multiple vertebral defects. The similarity between the proband's anomalies and those found in affected heterozygotes for DS support the possibility of a human homologue of the DS gene.

Abnormalities, Multiple↗
PubMed1990

Prevalence of congenital adrenal hyperplasia in Kuwait.

Between 1978 and 1988 congenital adrenal hyperplasia (CAH) was diagnosed in 60 children in Kuwait with an estimated prevalence of 1:9,000 livebirths, which is higher than that reported from Europe and Canada. In addition, there was presumptive evidence of CAH resulting in the death of 20 other children, giving a prevalence figure of 1:7000. There were 41 girls (68%) and 19 boys (32%). Thirty-one of the girls (75.6%) and 11 of the boys (57.9%) were saltlosers. Fifty-four patients (90%) were diagnosed as 21-hydroxylase deficient, 3 patients (5%) had a deficiency of the 3 beta-hydroxy-steroid dehydrogenase enzyme, and 3 patients (5%) showed a deficiency of 11 beta-hydroxylase.

Adrenal Hyperplasia, Congenital↗
PubMed1989

Familial uterine hernia syndrome: report of an Arab family with four affected males.

We report an Arab Bedouin family including four males with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal herniae, cryptochidism, and persistence of Müllerian derivatives. Histopathological studies confirmed the presence of both testicular tissue and Müllerian derivatives. The presence of two affected brothers and two affected maternal uncles suggests X-linked inheritance. Autosomal recessive determination with male sex limitation is also a possibility based on parental consanguinity in one sibship.

Anti-Mullerian Hormone↗
PubMed1987

Phenylketonuria in Kuwait and Arab countries.

Seven cases of phenylketonuria including a pair of siblings were detected among 451 institutionalized mentally retarded individuals in Kuwait. A further 13 cases from eight Arab families of different nationalities were ascertained among referral cases. The occurrence of phenylketonuria in Kuwait and other Arab countries is discussed in view of the high consanguinity rate and large family size. Our findings stress the need for neonatal screening.

Adolescent↗
PubMed1986

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].

A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.

Abnormalities, Multiple↗
PubMed1986

The effect of consanguineous marriages on reproductive wastage.

A stratified representative sample size of 5,007 Kuwaiti females aged 15 years and above was drawn during 1983 and structurally interviewed to study the influence of consanguineous marriages (up to the second cousin) on reproductive wastage. Losses comprised prenatal deaths (abortions and stillbirths) and neonatal deaths (up to the first month of life). The rate of consanguineous mating in the sample was 54.3% with 95% confidence limits estimated rate 52.9% to 55.7% when projected over the whole Kuwaiti population. First cousin marriages accounted for 30.2% of the sample followed by 22.1% less than first cousin (first cousin once removed and second cousins) and 2% only double first cousin. The study showed higher prenatal and neonatal losses among consanguineous (14.2%, 2.97%) than nonconsanguineous (13.97%, 2.54%) although not statistically significant. No consistent increase in reproductive wastage was evident as the inbreeding coefficient, F, advances mainly because of decline in the wastage rate among the double first cousin marriages which represents only 2% of our sample.

Abortion, Spontaneous↗
PubMed1985

Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.

We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.

Adolescent↗