نتایج جستجو برای: choanal atresia
تعداد نتایج: 10206 فیلتر نتایج به سال:
OBJECTIVES To evaluate the need for a tracheotomy and its timing during the evolution of an association of malformations, including coloboma, heart defects, choanal atresia, developmental and growth retardation, genitourinary malformation, and ear anomalies (CHARGE association). DESIGN Retrospective study from January 1988 through December 1997. SETTING Four academic tertiary care centers. ...
EDITOR—The CHARGE association is an increasingly recognised pattern of congenital anomalies comprising colobomata, heart defects, choanal atresia, retarded growth and development, hypoplastic genitalia, and ear abnormalities/deafness. We report a case of CHARGE association with a de novo chromosomal aberration, 46,X,+der(X)t(X;2), which was detected by spectral karyotyping. The proband, an 11 y...
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th-38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The ...
Objective We aimed to report on previously unappreciated clinical features associated with FOXP1 -related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, disability, and language or without autistic features. Methods performed whole-exome sequencing (WES) molecularly characterize an individual presenting ID, epilepsy, autism...
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