RESUMO
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.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/patologia , Cromossomos Humanos Par 1 , Anormalidades Múltiplas/patologia , Bandeamento Cromossômico , Transtornos Cromossômicos , Consanguinidade , Humanos , Lactente , Cariotipagem , Linfócitos/ultraestrutura , MasculinoRESUMO
An 8-year hospital-based retrospective study on the epidemiology of juvenile chronic arthritis (JCA), systemic lupus erythematosus (SLE) and other connective tissue diseases among children in Kuwait is described. There were 108 children with JCA, 20 children with SLE, 23 children with other connective tissue diseases and 24 children with arthritis of familial Mediterranean fever (FMF). The average annual incidence of JCA was 2.84 cases/10(5) children under the age of 12 years and the 1988 prevalence was 18.7/10(5). The polyarticular, systemic and oligoarticular onset types were observed in 42, 29 and 29%, respectively. The incidence and prevalence of SLE were 0.53 and 3.37/10(5), respectively. The findings are compared with those from other countries.