More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
نویسندگان
چکیده
منابع مشابه
Sleep Overlap Syndrome
Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA), was first defined by Flenley. Although it can refer to concomitant occurrence of any of the pulmonary diseases and OSA, overlap syndrome is commonly considered as the coexistence of OSA and COPD. This disease has unique adverse health consequences distinct from ...
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The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies,...
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BACKGROUND Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. CASE PRESENTATION We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED,...
متن کاملGenetic Overlap between Holoprosencephaly and Kallmann Syndrome.
Patients with Kallmann syndrome (KS; congenital hypogonadotropic hypogonadism and decreased/absent sense of smell), septo-optic dysplasia (SOD), or holoprosencephaly (HPE) reportedly have midline defects. In this study, we investigate a genetic overlap between KS, SOD, and HPE. Nineteen subjects (18 males, 1 female) with KS and without mutations in the known KS genes were screened for mutations...
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CHARGE syndrome is a specific collection of non-randomly occurring congenital anomalies. The patient of CHARGE syndrome may be presented to ophthalmologists due to ocular coloboma. The acronym CHARGE stands for the major features of this syndrome: Coloboma of the eye, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or deafness. T...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2013
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000351127