Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait

We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. Of 7739 live and still births born over this period, 97 babies had major congenital malformations [12.5/1000 births]: 49 [50.6%] babies had multiple system malformations, while 48 [49.4%] had single system anomalies. Of the 49 babies with multiple malformations, 21 [42.8%] had recognized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. Isolated systems anomalies included central nervous system [12 cases], cardiovascular system [9 cases], skeletal system [7 cases] and gastrointestinal system [6 cases]. Of the parents, 68% were consanguineous. Genetic factors were implicated in 79% of cases. Genetic services need to be provided as an effective means for the prevention of these disorders

Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait

In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction [PCR] testing. Twenty patients [11%] were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. Of these, 11 [55%] were confirmed fragile-X-positive by both cytogenetic and PCR techniques. The most frequent clinical features were: prominent forehead, high arched palate, hyperextensible joints, long ears, prominent jaw, height > 10th centile and attention-deficit hyperactivity. Less common were avoidance of eye contact [45%], autism [45%] and seizures [30%]. Large testes were found in 55% of cases. Pre-pubertal and post-pubertal clinical criteria were different

Limb / pelvis hypoplasia / aplasia [Al-Awadi / Raas-Rothschild] syndrome in three new Kuwaiti patients: Clinical and radiological description

This study describes three new patients in 2 Kuwaiti families having AI-Awadi/Raas-Rothschild syndrome. The cases had intercalary and distal limb reduction malformations, hypoplastic pelvic bones [LPAH syndrome] and unusual facial features. Clinical examination, skeletal survey, echocardiography, ultrasonography of head / abdomen, chromosomal study and FISH technique were done. The patients were 2 males and a female, having prenatal and postnatal growth delay. Two cases had capillary hemangiomata, sparse / brown hair, short nose, dysplastic / flabby ears and retrognathia. Symmetric limb reduction defects, phallus and clitoris enlargement have been found. The 1[st] case had balanced, reciprocal translocation, t [1,3][q32:q21], while the 2[nd] and the 3[rd] cases had normal karyotype. Skeletal survey showed variable limb reduction defects in the three cases. The patients share in common the severe pelvic hypoplasia, symmetric limb reduction defects, normal mentality and recessive mode of inheritance. These 3 new Kuwaiti families are added to the previously reported families in Kuwait Medical Genetics Center [KMGC]