Agnathia-holoprosencephaly-situs inversus

Özden, Selçuk; Fıçıcıoğlu, Cem; Kara, Mustafa; Oral, Onur; Bilgiç, Remziye

doi:10.1002/(sici)1096-8628(20000320)91:3<235::aid-ajmg16>3.0.co;2-h

Cited by 18 publications

(6 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Historically, patients with agnathia were classified into two basic groups: those with cyclopia and those without cyclopia [Pauli et al, 1981]. Later, four subclassifications were given: agnathia alone, agnathia with HPE, agnathia with situs inversus and visceral anomalies, and agnathia with HPE and situs inversus with visceral anomalies [Leech et al, 1988].…”

Section: Introductionmentioning

confidence: 99%

“…We then review animal studies to discuss potential molecular etiologies. In addition, there are over 60 other reported patients who may fit into the spectrum; however the data are unobtainable or are too incomplete to include in this series: 10 patients with HPE and “branchial arch anomalies” [Matsunaga and Shiota, 1977]; 17 non‐illustrated patients with cyclopia and agnathia [Keith, 1909]; two patients with “agnathia‐HPE complex” [Okuno et al, 1996]; and a literature review of 37 patients, four of whom met criteria for inclusion here using original sources [Pauli et al, 1981].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

Kauvar

Solomon²,

Curry

et al. 2010

American J of Med Genetics Pt C

View full text Add to dashboard Cite

Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here we present two new patients and review 30 patients from the literature with HPE and variants of agnathia. The majority of these patients are female and have the most severe forms of HPE, with cyclopia present more frequently than is usually observed in cohorts of patients with HPE. Also, many patients have additional clinical findings not typical in patients with classic HPE, particularly situs abnormalities. Recent animal studies suggest that the association of HPE and agnathia may relate to alterations in signaling from forebrain and foregut endoderm organizing centers and subsequent first pharyngeal arch development, although present models are inadequate to explain all of the clinical findings of this enigmatic human syndrome. Further research is required to better elucidate the causal and pathogenic basis of this association.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

Kauvar

Solomon²,

Curry

et al. 2010

American J of Med Genetics Pt C

View full text Add to dashboard Cite

show abstract

“…A lethal malformation complex of agnathia with associated anomalies has been reported in a number of patients, 10 of whom have had situs inversus and/or situs ambiguus [Pauli et al, 1981; Leech et al, 1988; Hersh et al, 1989; Robinson and Lenke, 1989; Meinecke et al, 1990; Persutte et al, 1990; Stoler and Holmes, 1992; Ozden et al, 2000]. Other malformations reported to be associated have involved the genitourinary, gastrointestinal, and central nervous system.…”

Section: Other Selected Phenotypes Of Interestmentioning

confidence: 99%

Discriminant analysis

McLachlan

2012

WIREs Computational Stats

View full text Add to dashboard Cite

The need for classification arises in most scientific pursuits. Typically, there is interest in ‘classifying’ an entity, say, an individual or object, on the basis of some characteristics (feature variables) measured on the entity. This article focuses on the form of classification known as supervised classification or discriminant analysis. It is applicable in situations where there are data of known origin with respect to the predefined classes from which a classifier can be constructed to assign an unclassified entity to one of these classes. We consider nonparametric and parametric approaches to the construction of classifiers. Consideration is given to recent results on the formation of classifiers in situations where the number of variables p is very large relative to the number of observations n. Methods for estimating the error rates of a classifier are described, including the situation where the classifier has been formed in some optimal way from a relatively small subset of the variables relative to the available number p. In such situations care has to be taken to avoid the selection bias inherent in the ordinarily used error‐rate estimators. WIREs Comput Stat 2012 doi: 10.1002/wics.1219 This article is categorized under: Statistical and Graphical Methods of Data Analysis > Multivariate Analysis

show abstract

“…Another frequently observed malformation is a complete or partial situs viscerum inversus. Since Kerckring [1717], nearly 80 cases of agnathia‐otocephaly complex have been published, with an estimated prevalence of less than 1 in 70,000 newborn infants [Bixler et al, 1985; Ibba et al, 2000; Özden et al, 2000]. Four further cases have recently been published [Utkus et al, 2001; Blaas et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

In this issue

Seydel¹

2002

Intl Journal of Cancer

View full text Add to dashboard Cite

Three fetuses with agnathia‐otocephaly complex representing different degrees of embryonic maldevelopment are reported. The study of the three cases and of the anterior embryonic disc supports the concept that an altered embryologic development might have taken place at Carnegie stages 10 (embryonic days 22 or 23) and 11 (embryonic days 23–26). Karyotypic abnormalities and aberrant gene expression of sonic hedgehog and paired‐related homeobox genes are discussed as the cytogenetic and molecular basis of agnathia‐otocephaly complex. © 2002 Wiley‐Liss, Inc.

show abstract

Agnathia-holoprosencephaly-situs inversus

Cited by 18 publications

References 10 publications

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

Discriminant analysis

In this issue

Contact Info

Product

Resources

About