Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations

Hall, Judith G.; Pallister, Philip D.; Clarren, Sterling K.; Beckwith, J. Bruce; Wiglesworth, F. W.; Fraser, F. Clarke; Cho, S.; Benke, Paul J.; Reed, Susan D.; Optiz, John M.

doi:10.1002/ajmg.1320070110

Cited by 316 publications

(203 citation statements)

References 27 publications

Supporting

Mentioning

192

Contrasting

Unclassified

Order By: Relevance

“…50 The condition is classically characterized by the presence of an HH in association with a spectrum of multiorgan malformations including central postaxial polydactyly, pituitary hypoplasia, bifid epiglottis, dysplastic nails, and imperforate anus. In some patients cardiac and renal anomalies as well as mild mental retardation are also present.…”

Section: Etiological and Molecular Biological Characteristicsmentioning

confidence: 99%

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Mittal

Montes

et al. 2013

FOC

View full text Add to dashboard Cite

Hypothalamic hamartomas are uncommon but well-recognized developmental malformations that are classically associated with gelastic seizures and other refractory seizure types. The clinical course is often progressive and, in addition to the catastrophic epileptic syndrome, patients commonly exhibit debilitating cognitive, behavioral, and psychiatric disturbances. Over the past decade, investigators have gained considerable knowledge into the pathobiological and neurophysiological properties of these rare lesions. In this review, the authors examine the causes and molecular biology of hypothalamic hamartomas as well as the principal clinical features, neuroimaging findings, and electrophysiological characteristics. The diverse surgical modalities and strategies used to manage these difficult lesions are outlined in the second article of this 2-part review.

show abstract

Section: Etiological and Molecular Biological Characteristicsmentioning

confidence: 99%

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Mittal

Montes

et al. 2013

FOC

View full text Add to dashboard Cite

show abstract

“…The spectrum of the different outcome varies from ectopic anus to atresia ani and recti with urogenitale fistula to complex deformations of the cloaca. In humans, anorectal malformations are often associated with syndromes: for example, Hirschsprung disease (Mahboubi and Templeton 1984), VACTERL (Khoury et al 1983), and TownesBrocks (Townes and Brocks 1972) or the Pallister-Hall (Hall et al 1980) syndrome.…”

Section: ÿ7mentioning

confidence: 99%

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

2005

View full text Add to dashboard Cite

Anal atresia is a rare and severe disorder in swine occurring with an incidence of 0.1-1.0%. A wholegenome scan based on affected half-sibs was performed to identify susceptibility loci for anal atresia. The analysis included 27 families with a total of 95 animals and 65 affected piglets among them. Animals were genotyped for 126 microsatellite markers distributed across the 18 autosomal porcine chromosomes and the X chromosome, covering an estimated 2080 cM. Single-point and multipoint nonparametric linkage scores were calculated using the computer package ALLEGRO 1.0. Significant linkage results were obtained for chromosomes 1, 3, and 12. Markers on these chromosomes and additionally on chromosomes for which candidate genes have been postulated in previous studies were subjected to the transmission disequilibrium test (TDT). The test statistic exceeded the genomewide significance level for adjacent markers SW1621 (P ¼ 7 3 10 ÿ7 ) and SW1902 (P ¼ 3 3 10 ÿ3 ) on chromosome 1, supporting the results of the linkage analysis. A specific haplotype associated with anal atresia that could prove useful for selection against the disorder was revealed. Suggestive linkage and association were also found for markers S0081 on chromosome 9 and SW957 on chromosome 12.

show abstract

“…The commonest and least severe defect is anal stenosis -the narrowing of the anal opening. More severe is the imperforate anus, which (Belloni et al, 2000, Hagan et al, 2000, Hall et al, 1980, Kohlhase et al, 1998, Martinez-Frias et al, 2001, Rittler et al, 1996, Ross et al, 1998. Animal models for various digestive system malformations have been developed to investigate their genetic and environmental basis.…”

Section: Introductionmentioning

confidence: 99%

Hedgehog signalling is required for cloacal development in the zebrafish embryo

Parkin¹,

Allen²,

Ingham³

2009

Int. J. Dev. Biol.

View full text Add to dashboard Cite

The Hedgehog (Hh) family of signalling molecules is essential for a wide range of developmental processes. Mammalian studies have implicated the Hedgehog pathway in the aetiology of anorectal malformations (ARMs), relatively common congenital anomalies caused by failures in the development of the cloaca. In this study we demonstrate that Hh signalling is absolutely required for the formation of the zebrafish cloaca and that the severity of the posterior gut abnormalities induced by a reduction in Hh activity is dependent on the levels of Hh signal transduction. The complete loss of all Hh activity results in the most severe defects and the critical period for Hh activity is between 34 and 74 hours post fertilisation. Using a range of mutant genotypes that cause notochord and floorplate abnormalities, we show that the source of the Hh signals required for posterior gut formation is the endoderm and not the notochord, as previously postulated in mammalian models of ARMs. We show that Adriamycin, a drug known to cause ARMs in rat, but not chick embryos, has no effect on the development of the zebrafish gastrointestinal tract. These studies establish the zebrafish as a model for ARMs, and for the elucidation of other pathways involved in hindgut developmental processes.

show abstract

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations

Cited by 316 publications

References 27 publications

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region onSus scrofaChromosome 1

Hedgehog signalling is required for cloacal development in the zebrafish embryo

Contact Info

Product

Resources

About