RESUMEN
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.
Asunto(s)
Anomalías Congénitas/epidemiología , Árabes/genética , Árabes/estadística & datos numéricos , Tasa de Natalidad , Aberraciones Cromosómicas/estadística & datos numéricos , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Anomalías Congénitas/prevención & control , Consanguinidad , Genes Dominantes/genética , Genes Recesivos/genética , Servicios Genéticos , Pruebas Genéticas , Necesidades y Demandas de Servicios de Salud , Humanos , Incidencia , Recién Nacido , Kuwait/epidemiología , Anamnesis , Herencia Multifactorial/genética , Linaje , Vigilancia de la Población , Diagnóstico Prenatal , Sistema de Registros , Factores de Riesgo , Mortinato/epidemiologíaRESUMEN
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
Asunto(s)
Árabes , Tasa de Natalidad , Aberraciones Cromosómicas , Consanguinidad , Genes Dominantes , Genes Recesivos , Anomalías CongénitasAsunto(s)
Anomalías Múltiples/genética , Inversión Cromosómica , Cromosomas Humanos Par 1 , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Discapacidad Intelectual/genética , Masculino , LinajeRESUMEN
We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.