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托列洛·凯里综合征:遗传学、临床及口腔方面的考量:一例病例报告

Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report.

作者信息

Maretti Márcia Bueno de Carvalho, Haddad Aida Sabbagh, Ferreira Maria Cristina Duarte, Guaré Renata de Oliveira, Alonso Luís Garcia

机构信息

Persons with Disabilities Division, ABENO (Associação Brasileira de Ensino Odontológico), Brasil.

出版信息

Spec Care Dentist. 2011 Mar-Apr;31(2):68-72. doi: 10.1111/j.1754-4505.2011.00179.x.

Abstract

Toriello Carey syndrome is a rare recessive autosomal disease whose clinical manifestations are more evident in males. Some authors report that the general characteristics of this disease are agenesis of the corpus callosum, mental disability, convulsions, atrial septal defect, pulmonary artery stenosis, pyloric stenosis, and hypospadias. Facial and cranial alterations may occur, including hypertelorism, telecanthus, divergent strabismus, malformed ears, anteverted nares, retrognathism, and cleft palate. This paper reports on a 13-year-old male with Toriello Carey syndrome and leucoderma, and describes his oral problems and his dental care.

摘要

托里埃洛·凯里综合征是一种罕见的常染色体隐性疾病,其临床表现在男性中更为明显。一些作者报告说,这种疾病的一般特征是胼胝体发育不全、智力残疾、惊厥、房间隔缺损、肺动脉狭窄、幽门狭窄和尿道下裂。可能会出现面部和颅骨改变,包括眼距过宽、内眦距过宽、外斜视、耳部畸形、鼻孔前倾、下颌后缩和腭裂。本文报告了一名患有托里埃洛·凯里综合征和白癜风的13岁男性,并描述了他的口腔问题和牙齿护理情况。

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