There is currently no recognized connection between the occurrence of cleft lip and/or palate (CL/P) and Wilms tumor (WT). A retrospective review of cleft team records (2001-2015) revealed 3 cases of children, all male, with concomitant diagnoses of CL/P and WT treated at our institution. These patients presented as infants for care of their CL/P, all with additional congenital anomalies, developmental delays, and growth delays. Between the ages of 1 and 4 years, each was diagnosed with WT, which was treated with chemotherapy and partial nephrectomy, +/− radiation, leading to full remission in all cases.
Al-HussainTAliAAkhtarM. Wilms tumor: an update. Adv Anat Pathol. 2014;21(3):166–173.
2.
AmarilloIEDippleKMQuintero-RiveraF. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet. 2013;161A(5):1167–1172.
3.
BacrotSDoyardMHuberCAlibeuOFeldhahnNLehalleDLacombeDMarlinSNitschkePVazquezMPet al.Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. Hum Mutat. 2015;36(2):187–190.
4.
Ben AbdallahIHannachiHSoyahNSaadAElghezalH. Chromosomal microarray analysis in a girl with mental retardation and spina bifida. Pediatr Neurol. 2011;44(1):65–68.
5.
BenkoSFantesJAAmielJKleinjanDJThomasSRamsayJJamshidiNEssafiAHeaneySGordonCTet al.Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009;41(3):359–364.
6.
BreslowNOlshanABeckwithJBGreenDM. Epidemiology of Wilms tumor. Med Pediatr Oncol. 1993;21(3):172–182.
7.
CamasseiFDJenknerABertiniEBosmanCDonfrancescoABoldriniR. Pierre Robin syndrome and Wilms’ tumor: an unusual association. Med and Pediatr Oncol. 2000;35(1):83–84.
8.
ChangBWalshCAApseKBodellA. Polymicrogyria overview. In: AdamMPArdingerHHPagonRAWallaceSE, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 2005. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1329/. Updated August 6, 2007. Accessed November 1, 2017.
DomeJSCottonCAPerlmanEJBreslowNEKalapurakalJARitcheyMLGrundyPEMalogolowkinMBeckwithJBShambergerRCet al.Treatment of anaplastic histology Wilms’ tumor: results from the Fifth National Wilms’ Tumor Study. J Clin Oncol. 2006;24(15):2352–2358.
11.
DomeJSHuffV. Wilms tumor predisposition. In: AdamMPArdingerHHPagonRAWallaceSE, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 2003. Available at:https://www.ncbi.nlm.nih.gov/books/NBK1294/. Updated October 20, 2016. Accessed November 1, 2017.
12.
ElbrachtMRoosASchonherrNBusseSDamenRZerresKRudnik-SchonebornSSchulerHM. Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype. Am J Med Genet A. 2009;149A(11):2547–2550.
13.
ElliottMMaherER. Beckwith-Wiedemann syndrome. J Med Genet. 1994;31(7):560–564.
14.
EsmailpourTRiazifarHLiuLDonkervoortSHuangVHMadaanSShoucriBMBuschAWuJTowbinAet al.A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014;51(3):185–196.
15.
Flotats-BastardasMSánchez-MontañezÁVázquez-MéndezEOrtega-AznarABoronat-GuerreroSRaspall-ChaureMdel Toro-RieraMMunellFMacaya-RuizARoig-QuilisM. Clinical variability of polymicrogyria: report of 35 new cases and review of the literature. Rev Neurol. 2012;55(6):321–329.
16.
FritzBMuller-NaviaJHilligUKöhlerMAslanMRehderH. Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization. Am J Med Genet. 1999;87(4):297–301.
17.
GolabiMLeungALopezC. Simpson-Golabi-Behmel Syndrome Type 1. In: AdamMPArdingerHHPagonRAet al. eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 2006. Available at:https://www.ncbi.nlm.nih.gov/books/NBK1219/. Updated June 23, 2011. Accessed March 3, 2018.
18.
HatadaINabetaniAMorisakiHXinZOhishiSTonokiHNiikawaNInoueMKomotoYOkadaAet al.New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet. 1997;100(5-6):681–683.
19.
HenneveldHTvan LingenRAHamelBCStolte-DijkstraIvan EssenAJ. Perlman syndrome: four additional cases and review. Am J Med Genet. 1999;86(5):439–446.
20.
HuangEYMascarenhasLMahourGH. Wilms’ tumor and horseshoe kidneys: a case report and review of the literature. J Pedatr Surg. 2004;39(2):207–212.
21.
HuffV. Wilms tumor genetics. Am J Med Genet. 1998;79(4):260–267.
22.
Hughes-BenzieRMPiliaGXuanJYHunterAGChenEGolabiMHurstJAKoboriJMarymeeKPagonRAet al.Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet. 1996;66(2):227–234.
23.
IsidorBBourdeautFLafonDPlessisGLacazeEKannengiesserCRossignolSPichonOBriandAMartin-CoignardDet al.Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. Eur J Hum Genet. 2013;21(7):784–787.
24.
JadresicLLeakeJGordonIDillonMJGrantDBPritchardJRisdonRABarrattTM. Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). J Pediatr. 1990;117(5):717–725.
25.
JakobsenLPUllmannRChristensenSBJensenKEMølstedKHenriksenKFHansenCKnudsenMALarsenLATommerupNet al.Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007;44(6):381–386.
26.
JonssonDILudvigssonPAradhyaSSigurdardottirSSteinarsdottirMHauksdottirHJonssonJJ. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism. Eur J Med Genet. 2012;55(6-7):437–440.
27.
KajiiTKawaiTTakumiTMisuHMabuchiOTakahashiYTachinoMNiheiFIkeuchiT. Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. Am J Med Genet. 1998;78(3):245–249.
28.
KirkpatrickBEEl-KhechenD. A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms’ tumor. Clin Dysmorphol. 2011;20(1):53–54.
29.
KirkpatrickJJLeslieSW. Horseshoe kidney. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2017. Available at:https://www.ncbi.nlm.nih.gov/books/NBK431105/. Updated May 21, 2017. Accessed November 1, 2017.
30.
LarocheCTestelinSDevauchelleB. Cleft palate and Beckwith-Wiedemann syndrome. Cleft Palate Craniofac J. 2005;42(2):212–217.
31.
LeslieEJMarazitaML. Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet. 2013;163(4):246–258.
32.
LeventerRJJansenAPilzDTStoodleyNMariniCDubeauFMaloneJMitchellLAMandelstamSSchefferIEet al.Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010;133(5):1415–1427.
33.
LiMSquireJShumanCFeiYLAtkinJPauliRSmithANishikawaJChitayatDWeksbergR. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics. 2001;74(3):370–376.
34.
MaasSMVansenneFKadouchDJIbrahimABliekJHopmanSMannensMMMerksJHMaherERHennekamRC. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. Am J Med Genet A. 2016;170(9):2248–2260.
MesrobianHGKelalisPPHrabovskyEOthersenHBJrdeLorimierANesmithB. Wilms tumor in horseshoe kidneys: a report from the National Wilms Tumor Study. J Urol. 1985;133(6):1002–1003.
37.
MooneyMP. Classification of orofacial clefting. In: LoseeJEKirschnerRE, eds. Comprehensive Cleft Care. New York, NY: McGraw-Hill Medical; 2008:21–33.
38.
MosseyPALittleJ. Epidemiology of oral clefts: an international perspective. In: WyszynskiDF, ed. Cleft Lip and Palate: From Origin to Treatment. New York, NY: Oxford University Press; 2002.
39.
NarchiH. Risk of Wilms’ tumour with multicystic kidney disease: a systematic review. Arch Dis Child. 2005;90(2):147–149.
40.
NgDThakkerNCorcoranCMDonnaiDPerveenRSchneiderAHadleyDWTifftCZhangLWilkieAOet al.Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004;36(4):411–416.
41.
NIH, National Human Genome Research Institute. Learning about WAGR syndrome. Available at:https://www.genome.gov/26023527/. Updated May 14, 2014. Accessed November 1, 2017. Entry Number 26023527.
42.
Online Mendelian Inheritance in Man (OMIM). Cerebrocostomandibular syndrome. In: McKusickVA, ed. Baltimore, MD: Johns Hopkins University; June 1986. Available at:https://www.omim.org/entry/117650. Updated April 14, 2017. Accessed November 1, 2017. Entry Number 117650.
43.
Online Mendelian Inheritance in Man (OMIM). Simpson-Golabi-Behmel syndrome, Type 1. In: McKusickVA, ed. Baltimore, MD: Johns Hopkins University; June 1986. Available at: https://www.omim.org/entry/312870. Updated February 21, 2013. Accessed March 3, 2018. Entry Number 312870.
44.
PetersonJFHartmanJGhaloul-GonzalezLSurtiUHuJ. Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster. Am J Med Genet. 2014;164A(3):810–814.
45.
PettenatiMJHainesJLHigginsRRWapperRSPalmerCGWeaverDD. Beckwith-Wiedemann syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet. 1986;74(2):143–154.
46.
ScottRHDouglasJBaskcombLHuxterNBarkerKHanksSCraftAGerrardMKohlerJALevittGAet al.Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet. 2008;40(11):1329–1334.
47.
Setó-SalviaNStanierP. Genetics of cleft lip and/or cleft palate: association with other common anomalies. Eur J Med Genet. 2014;57(8):381–393.
48.
SoyemiSSOsuojiRIFaduyileFASanniDAOyewoleOOObafunwaJOBankoleMA. Morphological features of Wilms’ tumour in a tertiary health care institution: our findings. J Clin Exp Pathol. 2013;3:146. doi:10.4172/2161-0681.1000146.
49.
TakatoTKameiMKatoKKitanoI. Cleft palate in the Beckwith-Wiedemann syndrome. Ann Plast Surg. 1989;22(4):347–349.
50.
TooleyMLynchDBernierFParboosinghJBhojEZackaiECalderAItasakiNWakelingEScottRet al.Cerebro-costo-mandibular syndrome: clinical, radiological, and genetic findings. Am J Med Genet A. 2016;170A(5):1115–1126.
51.
TraboulsiEILenzWGonzales-RamosMSiegelJMacraeWGMaumeneeIH. The Lenz microphthalmia syndrome. Am J Ophthalmol. 1988;105(1):40–45.
52.
VenkateshR. Syndromes and anomalies associated with cleft. Indian J Plast Surg. 2009;42 (Suppl):S51–S55.
53.
VieiraAR. Genetic and environmental factors in human cleft lip and palate. Front Oral Biol. 2012;16:19–31.
54.
WassalEYHabraMAVicensRRaoPElsayesKM. Ovarian thecal metaplasia of the adrenal gland in association with Beckwith-Wiedemann syndrome. World J Radiol. 2014;6(12):919–923.
55.
YuCCWongFHLoLJChenYR. Hereditary cleft lip/palate and Wilms tumor: a rare association. Cleft Palate Craniofac J. 2002;39(3):376–379.
