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S A al-Awadi

Publications and source records attributed to S A al-Awadi.

32 records · Page 2Linked to original sources
PubMed1990

Down syndrome in Kuwait.

During a 7-year-period (1980-1986) trisomy 21 was confirmed in 635 cases (257 males and 278 females). There were 611 cases of trisomy 21 (96.2%), 12 of different translocations (1.9%), 9 of mosaicism (1.4%), and 3 with nonclassical karyotypes (0.5%). The frequency of chromosome aberrations in our study is compared to that of major world-wide cytogenetic surveys comprising 17,738 Down syndrome cases. These surveys showed that regular trisomy 21 constitutes 92.9%, translocations 4.3%, mosaicism 2.2%, and nonclassical karyotypes 0.5%.

Adolescent↗
PubMed1990

Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism.

The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p). The variant 21S+ was inherited from the mother. The occurrence of translocation and trisomy in the same individual is extremely rare. Acrocentric chromosome association was analysed in this interesting family to understand the interrelationship of acrocentric chromosome association, Robertsonian translocation and heteromorphism, as possible predisposing factors for nondisjunction. Our findings suggest that acrocentric chromosome association is a heritable and nonrandom phenomenon. Heterozygous carriers for translocations and variants are likely to be at increased risk of nondisjunction. Long term family studies will enable to ascertain the causal-relationship of these factors more precisely.

Chromosomes, Human, Pair 14↗
PubMed1989

Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.

Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.

Abnormalities, Multiple↗
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↗
PubMed1989

A new autosomal recessive disorder resembling Weaver syndrome.

Most reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low-pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.

Abnormalities, Multiple↗
PubMed1989

Congenital hypothyroidism in Kuwait.

During a 7-year period (1981-1987), 25 children with congenital hypothyroidism were diagnosed in a regional hospital in Kuwait. The calculated incidence was 1:3476 live births. The diagnosis relied on clinical manifestation and confirmed by thyroid function tests. The age at diagnosis ranged between 3 weeks and 7 years with a mean of 18.5 months. Seven patients (28 per cent) were diagnosed in the first months, six in the following 5 months (24 per cent), and 12 diagnosed after the age of 6 months (48 per cent). Thyroid scan (TC-99M) was performed for 13 patients, four had thyroid aplasia, three had ectopia, and six had thyroid in normal position. In 1986-1987, two patients were detected by neonatal screening. Mental development was the best in the children who received thyroid hormone replacement in the first 6 months of life. Until a neonatal screening programme is widely available in developing countries, increased clinical awareness will remain the main way for the detection of congenital hypothyroidism.

Child↗
PubMed1989

Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome.

An Arab girl with macrosomia, severe microphthalmia and early infant death is reported. Four other sibs were similarly affected; three of them had median cleft palate. All five sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection. Parental consanguinity and affected sibs of both sexes strongly suggest autosomal recessive inheritance in this apparently new syndrome.

Cleft Palate↗