Limb anomalies in the CHARGE association.

Meinecke, Peter; Polke, A; Schmiegelow, P.

doi:10.1136/jmg.26.3.202

Cited by 23 publications

(14 citation statements)

References 5 publications

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“…Sixty-four patients (37.2%) had at least one limb anomaly (Table I) [Angelman, 1961;Ho et al, 1975;Rabaeus et al, 1983;Warburg, 1983;Bergstrom and Owens, 1984;Koletzko and Majewski, 1984;Dobrowski et al, 1985;Klein et al, 1985;Siebert et al, 1985;Davenport et al, 1986;Goldson et al, 1986;Wright et al, 1986;Brown et al, 1987;Chestler and France, 1988;Meinecke et al, 1989;Harvey et al, 1991;Marín et al, 1991;Van Meter and Weaver, 1996;de Lonlay-Debeney et al, 1997;Murofushi et al, 1997;Prasad et al, 1997;Dhooge et al, 1998;Kumar et al, 1999;Al Shamsan et al, 2000;Feigl et al, 2000;Haginomori et al, 2002;James et al, 2003]. The 64 patients had a total of 128 limb anomalies.…”

Section: Resultsmentioning

confidence: 96%

“…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%

“…Diagnostic criteria for CHARGE syndrome have not included limb anomalies. The cooccurrence of limb anomalies and CHARGE syndrome was first reported by Meinecke et al [1989]. Blake et al [1998] formally included limb/hand anomalies as an occasional finding of CHARGE syndrome.…”

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confidence: 97%

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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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Section: Resultsmentioning

confidence: 96%

Section: Methodsmentioning

confidence: 99%

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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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“…Limb anomalies were not initially described in CHARGE syndrome [4]. Recently, limb anomalies have been reported as a rare manifestation in CHARGE syndrome [3,17,19]. On the other hand, Brock et al [4] reported that limb anomalies occurred in about 30% of patients with definite or probable CHARGE syndrome.…”

Section: Discussionmentioning

confidence: 96%

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

et al. 2010

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It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients in countries where thymic transplantation is not ethically approved would be hematopoietic cell transplantation, long-term survival has not been obtained in most patients. On the other hand, it is still not clarified whether hypoparathyroidism is one of the manifestations of CHARGE syndrome. We observed a CHARGE syndrome patient with chromodomain helicase DNA-binding protein 7 mutation showing DiGeorge sequence including the defect of T cells accompanied with the aplasia of the thymus, severe hypoparathyroidism, and conotruncal cardiac anomaly. He received unrelated cord blood transplantation without conditioning at 4 months of age. Recovery of T cell number and of proliferative response against mitogens was achieved by peripheral expansion of mature T cells in cord blood without thymic output. Although he is still suffering from severe hypoparathyroidism, he is alive without serious infections for 10 months.

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“…The reported cases are summarized in Table 1 (Meinecke et al, 1989;Blake and Prasad, 2006;Jongmans et al, 2006;Douglas and Lam, 2010).…”

Section: Discussionmentioning

confidence: 98%

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly

Surányi

Maróti

Tálosi

et al. 2016

Clinical Dysmorphology

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Limb anomalies in the CHARGE association.

Cited by 23 publications

References 5 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

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly

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