Coloboma with Multiple Congenital Anomalies

Edwards, Jeff; Young, Rachel; Finlay, H. V. L.

doi:10.1136/bmj.2.5251.586-b

Cited by 24 publications

(10 citation statements)

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“…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: 97%

Central nervous system malformations in the CHARGE association

1990

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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.

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Section: Methodsmentioning

confidence: 97%

Central nervous system malformations in the CHARGE association

1990

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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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“…1,2 However, the association between coloboma, congenital heart defects and choanal atresia was first recognized by both Hall 3 and Hittner et al 4 in 1979. Then in 1981, Pagon et al 5 proposed the acronym CHARGE, which stands for the following symptoms: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital abnormalities, and Ear abnormalities (external, middle and inner ear including deafness).…”

Section: Introductionmentioning

confidence: 99%

CHARGE syndrome: a review of the immunological aspects

et al. 2015

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CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.

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Coloboma with Multiple Congenital Anomalies

Cited by 24 publications

References 0 publications

Central nervous system malformations in the CHARGE association

Central nervous system malformations in the CHARGE association

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

CHARGE syndrome: a review of the immunological aspects

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