Literature DB >> 26680784

Approach to the Diagnosis of Overgrowth Syndromes.

Mohnish Suri1.   

Abstract

Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay or intellectual disability, congenital anomalies, neurological problems and an increased risk of neoplasia. Recent advances in understanding the genetic basis of overgrowth syndromes has resulted in a move away from clinical classification to molecular classification of overgrowth syndromes. This review provides a structured clinical approach to patients with this group of disorders and includes most of the currently known overgrowth syndromes.

Entities:  

Keywords:  Diagnosis; Investigations; Overgrowth; Syndrome; Tumor risk

Mesh:

Year:  2015        PMID: 26680784     DOI: 10.1007/s12098-015-1958-1

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  62 in total

1.  Evidence for autosomal recessive inheritance in cerebral gigantism.

Authors:  S Nevo; M Zeltzer; A Benderly; J Levy
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

2.  Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.

Authors:  F Brioude; A Lacoste; I Netchine; M-P Vazquez; F Auber; G Audry; M Gauthier-Villars; L Brugieres; C Gicquel; Y Le Bouc; S Rossignol
Journal:  Horm Res Paediatr       Date:  2013-12-04       Impact factor: 2.852

3.  PTEN hamartoma tumour syndrome: early tumour development in children.

Authors:  Patroula Smpokou; Victor L Fox; Wen-Hann Tan
Journal:  Arch Dis Child       Date:  2014-08-11       Impact factor: 3.791

4.  Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Authors:  W W Lam; I Hatada; S Ohishi; T Mukai; J A Joyce; T R Cole; D Donnai; W Reik; P N Schofield; E R Maher
Journal:  J Med Genet       Date:  1999-07       Impact factor: 6.318

Review 5.  Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice.

Authors:  R H Scott; L Walker; Ø E Olsen; G Levitt; I Kenney; E Maher; C M Owens; K Pritchard-Jones; A Craft; N Rahman
Journal:  Arch Dis Child       Date:  2006-07-20       Impact factor: 3.791

6.  Elevated risk for MPNST in NF1 microdeletion patients.

Authors:  T De Raedt; H Brems; P Wolkenstein; D Vidaud; S Pilotti; F Perrone; V Mautner; S Frahm; R Sciot; E Legius
Journal:  Am J Hum Genet       Date:  2003-03-26       Impact factor: 11.025

7.  Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

Authors:  Kyle C Kurek; Valerie L Luks; Ugur M Ayturk; Ahmad I Alomari; Steven J Fishman; Samantha A Spencer; John B Mulliken; Margot E Bowen; Guilherme L Yamamoto; Harry P W Kozakewich; Matthew L Warman
Journal:  Am J Hum Genet       Date:  2012-05-31       Impact factor: 11.025

8.  Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Authors:  Ghayda M Mirzaa; Jean-Baptiste Rivière; William B Dobyns
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-04-16       Impact factor: 3.908

9.  Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

Authors:  Julie C Sapp; Joyce T Turner; Jiddeke M van de Kamp; Fleur S van Dijk; R Brian Lowry; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

10.  15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

Authors:  Katrina Tatton-Brown; Daniela T Pilz; Karen Helene Orstavik; Michael Patton; John C K Barber; Morag N Collinson; Vivienne K Maloney; Shuwen Huang; John A Crolla; Karen Marks; Eli Ormerod; Peter Thompson; Zafar Nawaz; Christa Lese-Martin; Susan Tomkins; Paula Waits; Nazneen Rahman; Meriel McEntagart
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

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  1 in total

1.  Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study.

Authors:  Michael Vaiman; Phillip Shilco; Yulia Roitblat; Nicolas Padilla-Raygoza; Aidan Leit; Aaron Kavin; Edan Schonberger; Liliia Nehuliaieva; Noa Buchris; Michael Shterenshis
Journal:  Cent Asian J Glob Health       Date:  2019-03-01
  1 in total

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