Bilateral Congenital Choanal Atresia Associated With Anomalies of the Foregut

Buckfield, P; Holdaway, M. D.; Horowitz, Sidney L.; Kean, Martin R.

doi:10.1111/j.1440-1754.1971.tb02469.x

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…These are minor findings in the AI/GEN Model 2, but are seen with some frequency in CHARGE syndrome. In addition, there are infrequent reports of other foregut abnormalities [Buckfield et al, 1971; Siebert et al, 1985]. The association between TEF and other GI malformations has been noted [Andrassy and Mahour, 1979].…”

Section: Resultsmentioning

confidence: 99%

Speculations on the pathogenesis of CHARGE syndrome

Williams

2005

American J of Med Genetics Pt A

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To be seriously considered, a theory about the pathogenesis of a multiple congenital anomaly syndrome should meet three criteria: (1) it should explain all of the anomalies associated with the syndrome; (2) it should explain why certain anomalies are not associated with the syndrome; and (3) it should predict anomalies that could be associated with the syndrome, but have not yet been described. The theory must eventually pass the ultimate test, that is, molecular confirmation of the proposed mechanism. Several theories about the pathogenesis of CHARGE syndrome have been proposed, but none of these meet the three criteria stated above. In this study, the author proposes that CHARGE syndrome is due to a disruption of mesenchymal–epithelial interaction (epithelial includes ectoderm and endoderm). The theory is tested against the major, minor, and occasional anomalies that are used to make the clinical diagnosis of CHARGE syndrome. Review of the known embryology of the organs and tissues involved in CHARGE syndrome confirms that mesenchymal–epithelial interactions are necessary for proper formation of these organs and tissues. The presence of limb anomalies in approximately one‐third of CHARGE syndrome patients fulfills criteria #3 above, in that limb anomalies were not felt to be a part of CHARGE syndrome until relatively recently. It is known that some patients with chromosomal abnormalities have a phenotype that overlaps with CHARGE syndrome. Given that critical developmental pathways must be robust and redundant in order to minimize errors, it may be that disruption of more than one gene is necessary to generate the CHARGE phenotype, as has been proposed for the holoprosencephaly sequence. Mutations and deletions of CHD7 have recently been identified as causing CHARGE syndrome in more than 50% of tested patients. Given this gene classes' putative role as a general controller of developmental gene expression as well as mesodermal patterning, it would fit the hypothesized mechanisms discussed in the study. © 2005 Wiley‐Liss, Inc.

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Section: Resultsmentioning

confidence: 99%

Speculations on the pathogenesis of CHARGE syndrome

Williams

2005

American J of Med Genetics Pt A

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“…Familial CHARGE patients, and patients with CHARGE phenotype with an abnormal karyotype were excluded. A total of 172 patients were included for study [Angelman, 1961;Edwards et al, 1961;Stool and Kemper, 1968;Buckfield et al, 1971;Levin et al, 1973;Ho et al, 1975;Sekhar and Sachs, 1976;Hittner et al, 1979;August et al, 1983;Curatolo et al, 1983;Rabaeus et al, 1983;Warburg, 1983;Bergstrom and Owens, 1984;Koletzko and Majewski, 1984;Dobrowski et al, 1985;Kaplan, 1985;Klein et al, 1985;Pardo and Chua, 1985;Siebert et al, 1985;Davenport et al, 1986;Goldson et al, 1986;Wright et al, 1986;Brown et al, 1987;Guyot et al, 1987;Stewart et al, 1987;Chestler and France, 1988;Coniglio et al, 1988;Ivarsson et al, 1988;Peters and Pontz, 1988;Wood et al, 1988;Allouche et al, 1989;Meinecke et al, 1989;Bartik et al, 1990;Ghalili et al, 1990;Menenzes and Coker, 1990;Harvey et al, 1991;Marín et al, 1991;Giorgetti et al, 1992;Venetikidou, 1993;…”

Section: Methodsmentioning

confidence: 99%

Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies

Brock

Mathiason

Rooney

et al. 2003

American J of Med Genetics Pt A

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CHARGE syndrome was initially not thought to involve the limb. Several subsequent reports have shown that limb anomalies are not uncommon. To date, there have been no quantitative studies of limb anomalies in CHARGE syndrome. This study was designed to answer several questions: Do CHARGE patients with limb anomalies represent a subgroup within CHARGE syndrome? Are there correlations between certain CHARGE syndrome anomalies and limb anomalies? Are there differences between the two genders and associated limb anomalies? Are certain types of limb anomalies seen with increased frequency in CHARGE syndrome? All described patients were categorized utilizing the AI/GEN Model 2 Criteria proposed by Mitchell [1985a: J Med Syst 9:425–435]. Patients with chromosomal anomalies or familial CHARGE were excluded, as were patients with inadequate clinical descriptions, and patients in large series where individual characteristics could not be ascertained. Multivariate analysis was performed. One hundred seventy two patients with definite or probable CHARGE syndrome were analyzed. Sixty‐four (37.2%) of these patients have at least one limb anomaly. Significant positive associations were seen between limb anomalies and ocular coloboma, urinary tract malformations, and genital anomalies. These associations were not significant when the definite or probable patients were analyzed separately, with the exception of genital anomalies in definite CHARGE. Gender differences were also identified. Females with tracheoesophageal fistula/esophageal atresia, or genital anomalies were more likely to have limb anomalies, while some female subgroups had positive associations between urinary tract malformations, or choanal atresia and limb anomalies. Negative associations were also seen with sensorineural hearing loss and facial paralysis. In contrast, males showed a positive association between coloboma and limb anomalies, while subgroup analysis identified positive associations with DiGeorge sequence or genital anomalies and limb anomalies. Limb anomalies are present in just over one‐third of CHARGE syndrome patients. Limb anomalies are seen more frequently in association with certain CHARGE anomalies, and these associations show gender differences. There is not a common limb anomaly seen in CHARGE syndrome. © 2003 Wiley‐Liss, Inc.

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“…The nonrandom association of coloboma, choanal atresia, and other congenital abnormalities has long been recognized [Angelman, 1961;Edwards et al, 1961;Stool and Kemper, 1968;Buckfield et al, 1971;James et al, 1974;Ho et al, 1975;Sassani and Yanoff, 1977;Hittner et al, 1979;Hall, 1979;Lillquist et al, 19801. In 1981, Pagon et a1 proposed the acronym CHARGE to designate this association (coloboma, congenital heart disease, choanal atresia, retarded growth and development andlor structural brain abnormalities, genital hypoplasia, and ear anomalies andlor deafness).…”

Section: Introductionmentioning

confidence: 99%

CHARGE association: Clinical manifestations and developmental outcome

1991

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Mental retardation and growth failure are considered integral manifestations in the CHARGE association, reported to be present in as many as 90% of cases. Recent studies have reported a better than expected outcome in some patients; however, the conclusions of these studies have been confounded to some extent by their inclusion criteria. We report follow-up of 17 patients with CHARGE association in whom the diagnosis was based on clinical findings present in early infancy, before developmental patterns were established. Of the 7 survivors, all had motor delay, and 6 had feeding difficulties during infancy. Psychometric assessment at follow-up (age range 2 years, 10 months, to 15 years) showed that 2 were functioning in the normal range, 3 had specific language delay, one had moderate mental retardation, and one had severe mental retardation. Feeding problems persisted in only the 2 youngest patients. After initial failure to thrive, normal height was reached in 4 of 5 children older than age 3 years. The effects of visual and hearing deficits, their management, and the effects of physical illness are discussed with respect to developmental outcome. Our results suggest that some infants with CHARGE association who survive early infancy have a better prognosis for feeding difficulties, growth, and mental development than may be expected from early performance and better than that generally predicted from the current literature. The prompt management of sensory deficits is emphasized.

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Bilateral Congenital Choanal Atresia Associated With Anomalies of the Foregut

Cited by 7 publications

References 9 publications

Speculations on the pathogenesis of CHARGE syndrome

Speculations on the pathogenesis of CHARGE syndrome

Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies

CHARGE association: Clinical manifestations and developmental outcome

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