Publications by authors named "S A Abulhassan"

5 Publications

  • Page 1 of 1

Clustering of trisomy 18 in Kuwait: Genetic predisposition or environmental?

Ann Saudi Med 1999 May-Jun;19(3):197-200

Kuwait Medical Genetic Centre, and Department of Community Medicine, Kuwait University, Kuwait.

Background: This study describes 59 newborns with regular trisomy 18 (EdwardsA centAA syndrome, T18) who were ascertained clinically and cytogenetically at the Kuwait Medical Genetic Centre from 1994 to 1997, out of 118 T18 cases identified from 1980 to 1997.

Materials And Methods: T18 cases were ascertained clinically and cytogenetically shortly after birth. In addition to assessing the T18 birth prevalence rate and confidence limits during the years 1994-1997, we investigated the possible etiological factors by a case-control study with normal healthy newborns. Studied factors included gender, parental age, birth order, abortion, clinical variables (presentation, amniotic fluid and mode of delivery), and survival.

Results: The average T18 birth prevalence rate during the period was 8.95 per 10,000 live births (95% confidence limits 6.66-11.23). The T18 cases were mostly females, with a male:female ratio of 1:2.1, and the majority (53%) died before the second week of life. Maternal age above 30 years was found to be a significant factor for T18.

Conclusion: This high T18 birth prevalence rate suggests clustering of T18 in the highly inbred population of Kuwait. Such clustering may indicate a possible environmental, and to a lesser extent, genetic predisposition to aneuploidy nondisjunction.
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http://dx.doi.org/10.5144/0256-4947.1999.197DOI Listing
October 2012

Trisomy 18 in Kuwait.

Int J Epidemiol 1999 Aug;28(4):711-6

Kuwait Medical Genetic Centre.

Background: Trisomy 18 (Edwards' syndrome, T18) is the second most common trisomy in man. We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997.

Methods: Ascertainment of T18 cases was performed shortly after birth. Chromosomal studies were carried out in addition to other relevant investigations. To investigate the factors associated with T18, a case-control study was carried out with 131 normal healthy newborns. Studied factors included maternal and paternal age, birth order, abortion, associated malformation, and survival. Multiple logistic regression analysis was used to adjust for confounding between variables.

Results: There was a preponderance of females among T18 cases (female:male ratio 2.1:1). The majority of T18 cases (53%) died before the second week of life. The most common associated anomalies were: congenital heart (38.1%) and gastrointestinal (25.4%). Multiplicity of malformations was also observed. Significant seasonal variation in T18 cases was detected with a peak in spring. Of the 118 T18 cases, 59 were delivered during 1994-1997 (average overall T18 birth prevalence rate 8.95 per 10 000 live births [95% CI: 6.66-11.23]). Concerning maternal age, 30.5% of the T18 cases' mothers were > or =35 years compared to 10.7% in the control group. The difference was statistically significant, P = 0.002. Logistic regression analysis showed that maternal age >30 years was a significant risk factor for T18, after adjusting for confounding with paternal age. Paternal age and abortion were not found to be significant risk factors.

Conclusion: Trisomy 18 birth prevalence rate is high in Kuwait with advanced maternal age as a significant risk factor.
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http://dx.doi.org/10.1093/ije/28.4.711DOI Listing
August 1999

Kenny-Caffey syndrome: an Arab variant?

Clin Genet 1999 Jan;55(1):44-9

Kuwait Medical Genetics Centre.

We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.
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http://dx.doi.org/10.1034/j.1399-0004.1999.550108.xDOI Listing
January 1999

Cutis verticis gyrata-mental deficiency syndrome: report of a case with unusual neuroradiological findings.

Clin Dysmorphol 1998 Apr;7(2):131-4

Department of Neurology, Ibn Sina Hospital, Hawalli, Kuwait.

The clinical and radiological features of a patient with Cutis Verticis Gyrata-Mental Deficiency syndrome are reported. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, microcephaly with multiple furrows on the scalp and normally growing overlying hair. He was blind with bilateral optic atrophy, multiple joint contractures and spastic tetraplegia. Skull X-ray showed thickened calvarial bones but other features of pachydermoperiostosis were absent. Brain MRI showed well developed, albeit small, frontal and anterior temporal lobes with a normal gray-white matter interface. The parietal and occipital cortex were atrophic with widening of the occipital horns (colpocephaly). The sylvian fissures were accentuated because of atrophic parietal operculae. The splenium of the corpus callosum was hypoplastic. There was atrophy of the cerebellar cortex. Contrary to the previously described cerebral cortical polymicrogyria in Cutis Verticis Gyrata-Mental Deficiency syndrome, there was no evidence to suggest any migration disorder in our patient. The present report highlights the clinico-radiological heterogeneity of the syndrome.
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http://dx.doi.org/10.1097/00019605-199804000-00010DOI Listing
April 1998

Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?

Clin Genet 1997 May;51(5):326-30

Neurology Department, Ibn Sina Hospital, Kuwait.

Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
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http://dx.doi.org/10.1111/j.1399-0004.1997.tb02482.xDOI Listing
May 1997