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Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review.
Hoyme HE, Seaver LH, Jones KL, Procopio F, Crooks W, Feingold M. Hoyme HE, et al. Am J Med Genet. 1998 Oct 2;79(4):274-8. Am J Med Genet. 1998. PMID: 9781907 Review.
It may be an isolated finding in an otherwise normal individual, or it may occur in several syndromes. Although isolated hemihyperplasia (IHH) is of unknown cause, it may represent one end of the clinical spectrum of the Wiedemann-Beckwith syndrome (WBS). ...
It may be an isolated finding in an otherwise normal individual, or it may occur in several syndromes. Although isolated he …
Beckwith-Wiedemann syndrome and isolated hemihyperplasia.
Gomes MV, Ramos ES. Gomes MV, et al. Sao Paulo Med J. 2003 May 5;121(3):133-8. doi: 10.1590/s1516-31802003000300010. Epub 2003 Aug 8. Sao Paulo Med J. 2003. PMID: 12920477 Free article. Review.
DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders …
DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated …
Two cases of hemihyperplasia-multiple lipomatosis syndrome and review of asymmetric hemihyperplasia syndromes.
Craiglow BG, Ko CJ, Antaya RJ. Craiglow BG, et al. Pediatr Dermatol. 2014 Jul-Aug;31(4):507-10. doi: 10.1111/pde.12071. Epub 2013 Mar 5. Pediatr Dermatol. 2014. PMID: 23458125 Review.
Hemihyperplasia-multiple lipomatosis syndrome (HHML) is a condition characterized by asymmetric nonprogressive overgrowth, multiple lipomas, and superficial vascular malformations. ...
Hemihyperplasia-multiple lipomatosis syndrome (HHML) is a condition characterized by asymmetric nonprogressive overgrowth, multiple l …
Primary intestinal lymphangiectasia presenting as limb hemihyperplasia: a case report and literature review.
Khayat AA. Khayat AA. BMC Gastroenterol. 2021 May 18;21(1):225. doi: 10.1186/s12876-021-01813-6. BMC Gastroenterol. 2021. PMID: 34006223 Free PMC article. Review.
The foot swelling had been evaluated by different health care professionals in the past, and was mislabeled as either cellulitis, or congenital hemihyperplasia. Physical examination revealed mild ascites, and a non-pitting foot edema with a positive Stemmer's sign (lymphed …
The foot swelling had been evaluated by different health care professionals in the past, and was mislabeled as either cellulitis, or congeni …
Syndromes, disorders and maternal risk factors associated with neural tube defects (I).
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2008 Mar;47(1):1-9. doi: 10.1016/S1028-4559(08)60048-0. Taiwan J Obstet Gynecol. 2008. PMID: 18400576 Free article. Review.
This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds ) …
This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal s …
Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.
Tan TY, Amor DJ. Tan TY, et al. J Paediatr Child Health. 2006 Sep;42(9):486-90. doi: 10.1111/j.1440-1754.2006.00908.x. J Paediatr Child Health. 2006. PMID: 16925531 Review.
An increased cancer risk has also been observed in individuals with isolated hemihyperplasia. We critically review the evidence for tumour surveillance in Beckwith-Wiedemann syndrome and isolated hemihyperplasia and suggest local practice guidelines... …
An increased cancer risk has also been observed in individuals with isolated hemihyperplasia. We critically review the evidenc …
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM. Gripp KW, et al. Am J Med Genet A. 2016 Oct;170(10):2559-69. doi: 10.1002/ajmg.a.37758. Epub 2016 May 18. Am J Med Genet A. 2016. PMID: 27191687 Free PMC article. Review.
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be the result of genomic abnormalities seen in Beckwith-Wiedemann syndrome, mosaic chromosome or genomic abno …
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is gen …
Growth regulation, imprinted genes, and chromosome 11p15.5.
Smith AC, Choufani S, Ferreira JC, Weksberg R. Smith AC, et al. Pediatr Res. 2007 May;61(5 Pt 2):43R-47R. doi: 10.1203/pdr.0b013e3180457660. Pediatr Res. 2007. PMID: 17413842 Review.
Recently, several human diseases in addition to Beckwith-Wiedemann syndrome have been reported to have molecular alterations at chromosome 11p15.5. These include isolated hemihyperplasia, Russell-Silver syndrome, and transient neonatal diabetes mellitus. ...
Recently, several human diseases in addition to Beckwith-Wiedemann syndrome have been reported to have molecular alterations at chromosome 1 …
[Risks factors for pediatric malignant liver tumors].
Ferrís I Tortajada J, Ortega García JA, Garcia I Castell J, López Andreu JA, Ribes Koninckx C, Berbel Tornero O. Ferrís I Tortajada J, et al. An Pediatr (Barc). 2008 Apr;68(4):377-84. doi: 10.1157/13117711. An Pediatr (Barc). 2008. PMID: 18394385 Free article. Review. Spanish.
The main constitutional RFs are: a) Beckwith-Wiedemann (BW) syndrome; b) isolated hemihyperplasia syndrome (IHS); c) adenomatous polyps of the colon; d) hemochromatosis; e) Hereditary Tyrosinemia Type 1; f) a -1-antitrypsin deficiency; g) porphyrias; h) cirrhosis; i …
The main constitutional RFs are: a) Beckwith-Wiedemann (BW) syndrome; b) isolated hemihyperplasia syndrome (IHS); c) adenomato …
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Romanelli V, et al. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Am J Med Genet A. 2010. PMID: 20503313 Review.
Here, we report on eight patients with BWS and CDKN1C mutations and review previous reported cases. We analyzed 72 patients (50 BWS, 17 with isolated hemihyperplasia (IH), three with omphalocele, and two with macroglossia) for CDKN1C defects with the aim to search f …
Here, we report on eight patients with BWS and CDKN1C mutations and review previous reported cases. We analyzed 72 patients (50 BWS, 17 with …
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