Anencephaly: disappearing in Kuwait?
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Anencephaly↗
Biomedical subjects
S A Al-Awadi
Publications and source records attributed to S A Al-Awadi.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
We present a family with numerous first cousin marriages and several members affected with spondyloepiphyseal dysplasia tarda with progressive arthropathy causing severe crippling and deformity. The extensive pedigree provides strong evidence for autosomal recessive inheritance.
Adolescent↗
Ullrich-Turner syndrome in monozygotic twins.
We report on the Ullrich-Turner syndrome in monozygotic twin sisters. The first twin had the syndrome with a 45,X chromosome constitution. The second twin had only minor manifestations of the syndrome with 46,XX/45,X mosaicism. The literature on the Ullrich-Turner syndrome in twins is reviewed.
Blood Grouping and Crossmatching↗
Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome.
A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra-abdominal testis, a left streak gonad containing follicle-like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X-chromatin negative and a Y-chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45,X/46,XY/46,X + i(Yp)/46,X, + Yq-/47,XYY/47,XY + Yq-.
Child, Preschool↗
Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).
A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.
Abnormalities, Multiple↗
Autosomal recessive inheritance of intestinal atresia.
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Chromosome Aberrations↗
Autosomal recessive "uncomplicated" profound childhood deafness in an Arabic family with high consanguinity.
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Adolescent↗
Familial jejunal atresia with 'apple-peel' variant.
We report two siblings who had jejunal atresia which we believe to be familial. The parents of these siblings were first cousins. The first child had jejunal atresia with mesenteric agenesis and 'apple-peel' configuration; the second child had jejunal atresia with a V-shaped mesenteric defect. Other reported cases of familial atresia of the small intestine are reviewed.
Humans↗