RESUMO
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.
Assuntos
Surdez/congênito , Surdez/genética , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Surdez/diagnóstico , Surdez/epidemiologia , Países Desenvolvidos , Aconselhamento Genético , Marcadores Genéticos , Testes Genéticos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Humanos , SíndromeRESUMO
BACKGROUND: In Chile, 14 to 16% of births occur in teenage mothers. These mothers apparently have a higher frequency of premature labor, low birth weight and congenital malformations. AIM: To assess the frequency of prematurity, congenital malformations and weight at birth among the offspring of adolescent mothers. PATIENTS AND METHODS: The births occurred in a hospital between 1982 and 2001, were analyzed using the Latin American Collaborative Study for Congenital Malformations (ECLAMC) data base. Mothers were classified as teenagers when their age ranged between 10 and 19 years old and older when their age was over 20 years old. All women were subdivided as cases and controls. RESULTS: The sample was formed by 894 teenage and 806 older mothers. Seven percent of both teenage and older mothers had offspring with one or more malformations. The incidence of low birth weight newborns and of prematurity was also similar in both groups of mothers. CONCLUSIONS: In this sample, offspring of teenage mothers do not have a higher frequency of malformations, low birth weight or prematurity.
Assuntos
Anormalidades Congênitas/epidemiologia , Recém-Nascido de Baixo Peso , Trabalho de Parto Prematuro/epidemiologia , Gravidez na Adolescência , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Chile/epidemiologia , Feminino , Humanos , Recém-Nascido , Idade Materna , Gravidez , PrevalênciaRESUMO
Ovarian cysts are found in 32% of necropsies performed to neonates. They can also be diagnosed during gestation by ultrasonography. The clinical evolution of these cysts is variable, but in most cases the prognosis is favorable. Some complications such as ovarian torsion, bleeding, rupture and peritonitis have been described. We report two newborn girls with ovarian cysts, diagnosed during gestation. One required an emergency operation due to vomiting and abdominal distension, interpreted as a possible torsion of the cyst. The second girl was operated at the fourth day of life, finding a left ovarian cyst with torsion of the pedicle. Both girls had a favorable postoperative evolution.