Otorhinolaryngic Manifestations of CHARGE Association

Dobrowski, John M.; Grundfast, Kenneth M.; Rosenbaum, Kenneth N.; Zajtchuk, Joan T.

doi:10.1177/019459988509300619

Cited by 33 publications

(15 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…However, for the comparison of CNS malformations with other anomalies, we analyzed CNS malformations and mental and growth retardation separately. One hundred thirty-six patients reported in the literature [Edwards et al, 1961;Stool and Kemper, 1968;James et al, 1974;Ho et al, 1975;Sekhar and Sachs, 1976;Say et al, 1977;Sassani and Yanoff, 1977;Hittner et al, 1979;Hall, 1979;Lillquist et al, 1980;Pagon et al, 1981;Bartoshesky et al, 1982;August et al, 1983;Curatolo et al, 1983;Warburg, 1983;Koletzko and Majewski, 1984;Awrich et al, 1984;Bergstrom and Owens, 1984;Dobrowski et al, 1985;Kaplan, 1985;Wright et al, 1986;Goldson et al, 1986;Kveselis et al, 1986;Davenport et al, 1986;Beemer et al, 1986;Lin et al, 1987;Rogers and Hamilton, 1987;Metlay et al, 1987;Stewart et al, 1987;Chestler and France, 1988;Hall and Blumberg, 1988;Oley et al, 1988;Meinecke et al, 19891 and 8 new patients are discussed herein.…”

Section: Methodsmentioning

confidence: 99%

Central nervous system malformations in the CHARGE association

1990

View full text Add to dashboard Cite

Of 144 patients with the CHARGE association (literature 136, new patients 8), 47 (33%) had either a postmortem examination (30) or computerized axial tomography scan (17) of the head. Twenty-six of 47 (55%) had definite central nervous system (CNS) malformations; arhinencephaly, with or without other defects (11), holoprosencephaly (2), holoprosencephaly with arhinencephaly (1), other forebrain defects (3), hindbrain defects (3), or other defects (6). The presence of CNS malformation was most strongly associated with choanal atresia. This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE association.

show abstract

“…According to a study conducted by Dobrowski, the ratio of unilateral: bilateral choanal atresia is of 2:1, the unilateral one being most frequent on the right side [10].…”

Section: Discussionmentioning

confidence: 99%

Choanal Atresia – A Permanent Challenge in Rhinology Pathology

Budu

Decuseară²,

Costache³

et al. 2016

The Scientific Bulletin of Electrical Engineering Faculty

View full text Add to dashboard Cite

Abstract. Choanal atresia is the most frequent nasal congenital malformation, which, depending on the unilateral or bilateral location, has a different symptomatology. The diagnosis is confirmed through the patient's medical history, nasal endoscopy and imagistic examination (computed tomography). The treatment is surgical and aims the (fibrous and bone) tissue disintegration which blocks the choana, and is performed through endoscopic surgical techniques. The blocked area is maintained functional by mounting a stent at the choanal tunnel level. The authors aim to describe their own experience regarding both the diagnoses as well as the treatment of this pathology, the results being compared to those from the quoted literature. The surgical technique differs depending on the type of choanal atresia: bone or membranous. The duration to maintain a fix position of the stent and the material used for the stent represent the variables which provide the success of the endoscopic surgical intervention of the choanal atresia. Subsequently, the patient is followed up at 2, 6, 12 months in the first year and then annually until 18 years of age. Choanal atresia is solved through endoscopic surgical techniques by mounting a silicone stent which shall be maintained in position for a minimum period of 3 months. The endoscopic approach of the unilateral choanal imperforation is the method of choice with minimum complications, increased success rate and fast recovery.

show abstract

Otorhinolaryngic Manifestations of CHARGE Association

Abstract: The views or assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the Department of the Anny or the Department of Defense.

Cited by 33 publications

References 12 publications

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

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

Central nervous system malformations in the CHARGE association

Choanal Atresia – A Permanent Challenge in Rhinology Pathology

Contact Info

Product

Resources

About