CHARGE Syndrome

Hudson, Alexandra; Trider, Carrie-Lee; Blake, Kim

doi:10.1542/pir.2016-0050

Cited by 16 publications

(19 citation statements)

References 5 publications

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“…The patient suffered from profound deafness and the cranial CT indicated that the patient had no left auditory nerve. Of note, visual and hearing impairments, as well as intellectual disability, are frequently observed in patients with CHARGE syndrome (16). Unilateral left facial palsy was first reported at birth in the patient; however, at the time of the present study, it had not been determined whether the patient had a full or diminished sense of smell, or complete anosmia, coordinated by CN I.…”

Section: Discussionmentioning

confidence: 68%

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

et al. 2020

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Section: Discussionmentioning

confidence: 68%

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

et al. 2020

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“…It is a highly variable syndrome, usually diagnosed during the prenatal or neonatal period [ 29 , 30 ]. The actual incidence remains unknown, but it is believed to occur approximately in one case in 10,000–15,000 live births [ 31 ].…”

Section: Resultsmentioning

confidence: 99%

Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal

et al. 2021

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Rare genetic syndromes, conditions with a global average prevalence of 40 cases/100,000 people, are associated with anatomical, physiological, and neurological anomalies that may affect different body districts, including the oral district. So far, no classification of oral abnormalities in rare genetic syndromes is present in the literature. The aim of this narrative review is to analyze literature on rare genetic syndromes affecting dento-oro-maxillofacial structures (teeth, maxillary bones, oral soft tissues, or mixed) and to propose a classification according to the detected oral abnormalities. In addition, five significant cases of rare genetic syndromes are presented. The Scale for the Assessment of Narrative Review Articles (SANRA) was followed for this review. From 674 papers obtained through PubMed search, 351 were selected. Sixty-two rare genetic syndromes involving oral manifestations were found and classified. The proposed classification aims to help the clinician to easily understand which dento-oro-maxillofacial findings might be expected in the presence of each rare genetic syndrome. This immediate framework may both help in the diagnosis of dento-oro-maxillofacial anomalies related to the underlying pathology as well as facilitate the drafting of treatment plans with the involvement of a multidisciplinary team.

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“…Gonadal defects are mostly related to the hypogonadotropic hypogonadism, which mostly occur with anosmia, same as in Kallmann Syndrome [73]. Hormone replacement therapy or gonadoliberin therapy are among treatments implemented in patients with CHARGE syndrome [74]. Patau syndrome was clinically described in 1960 by Dr Patau [75], who connected congenital clinical symptoms such as: microcephaly and intrauterine malformations, with trisomy of chromosome 13.…”

Section: Pleiotropic Genetic Syndromesmentioning

confidence: 99%

Male hypogonadotropic hypogonadism in various genetic disorders

Niedobylski

Laszczak

Warchoł

et al. 2020

J Educ Health Sport

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Introduction and purpose: Male hypogonadism is diagnosed in patients with total testosterone under 9-12nmol/L (250-350ng/dl) in serum which is associated with numerous symptoms which can severely lower the quality of patients life. Due to the cause and associated levels of gonadotropins it can be divided to hypergonadotropic and hypogonadotropic hypogonadism. Hypogonadotropic hypogonadism occurs far less often, but it’s considered to remain underdiagnosed. The purpose of this study is to review most of the inborn diseases that involve hypogonadotropic hypogonadism as one of their components.Current state of knowledge: Patients with Kallmann syndrome constitute the majority of confirmed hypogonadotropic hypogonadism cases, however due to variable epidemiological data and differing diagnosing processes the exact incidence cannot be estimated – it ranges from 1 in 85 000, to 1 in 5000 males and about 3-4 times less often in women. Other conditions that can occur with hypogonadotropic hypogonadism are Isolated Gonadotropin-Releasing Hormone deficiency, Gonadotropin disorders, Prader-Willi Syndrome, some pleiotropic syndromes like CHARGE syndrome, Patau syndrome, Pfeiffer syndrome, Hartsfield syndrome, Waardenburg syndrome, Bardet-Biedl syndrome, or other syndromes. The evaluation and treatment of some of these conditions does not involve hypogonadism or other gonadal disorders due to short lifespan, which cause the underestimations in hypogonadism morbidity.Conclusions: Regardless of lower incidence of hypogonadotropic hypogonadism compared to hypergonadotropic type, endocrinologists should stay aware of its under-diagnosis and actively search for signs of low gonadotropic hormones and gonadotropin-releasing hormone levels in hypogonadal patients.

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CHARGE Syndrome

Cited by 16 publications

References 5 publications

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal

Male hypogonadotropic hypogonadism in various genetic disorders

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