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

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]

Profile of chromosomal abnormalities in the Al Jahra region of Kuwait

One hundred and seventy-seven newborn babies with chromosomal abnormalities were studied at the Al-Jahra satellite clinic of the Kuwait Medical Genetics Centre [KMGC], Kuwait, over a 7-year period from January 1983 to December 1989 to make a reanalysis and recomputation of the statistical results of the previous short-term studies. The data were collected from the registry of chromosomal abnormalities and from the clinical records of the patients in KMGC retrospectively. Controls were selected from the newborn babies delivered in the same period of study. The logistic regression analysis was computed using dependent/independent variables. Ninety-five% of the cases had numerical chromosomal abnormalities, and 5% had structural chromosomal abnormalities. One hundred and forty-five cases had classic trisomy 21, with an incidence of 2.9/1,000 live births [LB], 16 cases had trisomy 18 [0.3/1,000 LB], 5 cases had trisomy 13 [0.1/1,000 LB], 1 case had triploidy 69, XXY [0.02/1,000 LB] and 1 had Turner's syndrome [0.05/1,000 female LB]. Nine cases with structural chromosomal abnormalities were enumerated, dir dup[1] [p21-p32], del[1][q32-q42], del[13][q22-q34] and inversion Y chromosome, the incidence was 0.02/1,000 LB for each. Two cases of translocation trisomy 21 [0.04/1,000 LB] and 3 cases of cri-du-chat [0.06/1,000 LB] were enumerated too. Bedouins had a double-fold increased risk of trisomy 21 [odds ratio = 1.819, p = 0.032], and advanced maternal age was also a risk factor while paternal age showed inconsistent pattern of risk. This study confirmed the high incidence of the common trisomies and the role of advanced maternal age and the Bedouin ethnicity as a risk factor