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Urofacial (ochoa) syndrome: A literature review

  • Sebastian Osorio
    Correspondence
    Correspondence to: Sebastian Osorio, Internal Medicine Department, Faculty of Medicine, Universidad de Antioquia. Calle 64 # 51D – 154. San Vicente Fundacion University Hospital. Medellin, Colombia. Tel.: +57 (+4) 219 24 20.
    Affiliations
    IPS Universitaria Clinica Leon XIII. Internal Medicine Department. Faculty of Medicine, Universidad de Antioquia. Medellin, Colombia
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  • Nestor D. Rivillas
    Affiliations
    IPS Universitaria Clinica Leon XIII. Urology Department. Faculty of Medicine, Universidad de Antioquia. Medellin, Colombia
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  • Jorge A. Martinez
    Affiliations
    San Vicente Fundacion University Hospital. Division of Pediatric Urology and Surgery. Faculty of Medicine, Universidad de Antioquia. Medellin, Colombia
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Published:January 24, 2021DOI:https://doi.org/10.1016/j.jpurol.2021.01.017

      Summary

      The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted facial expression (those affected seem crying while smiling) associated with lower urinary tract dysfunction without evident obstructive or neurological cause. It is associated with autosomal recessive inheritance mutations in the HPSE2 gene, located at 10q23-q24, and the LRGI2 gene, located in 1p13.2; however, in up to 16% of patients, no associated mutations have been found. Recent evidence suggests that these genes are critical to an adequate neurological development to the lower urinary tract and that the origin of the disease seems to be due to peripheral neuropathy. There is clinical variability among patients with UFS and not all present the classic two components, and it has even been genetically confirmed in patients with a prior diagnosis of Hinman Syndrome or other bladder dysfunctions. Also, the presence of nocturnal lagophthalmos in these patients was recently described. Early recognition and timely diagnosis are critical to preventing complications such as urinary tract infections or chronic kidney disease. Next, the history of Urofacial Syndrome, the advances in its pathophysiology, and its clinical characteristics is reviewed.

      Keywords

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      References

        • Irwin D.E.
        • Milsom I.
        • Hunskaar S.
        • Reilly K.
        • Kopp Z.
        • Herschorn S.
        • et al.
        Population-based survey of urinary incontinence, overactive bladder, and other lower urinary tract symptoms in five countries: results of the EPIC study.
        Eur Urol. 2006; 50: 1306-1315https://doi.org/10.1016/j.eururo.2006.09.019
        • Vaz G.T.
        • Vasconcelos M.M.
        • Oliveira E.A.
        • Ferreira A.L.
        • Magalhães P.G.
        • Silva F.M.
        • et al.
        Prevalence of lower urinary tract symptoms in school-age children.
        Pediatr Nephrol. 2012; 27: 597-603https://doi.org/10.1007/s00467-011-2028-1
        • Ballek N.K.
        • McKenna P.H.
        Lower urinary tract dysfunction in childhood.
        Urol Clin. 2010; 37: 215-228https://doi.org/10.1016/j.ucl.2010.03.001
        • Neild G.H.
        What do we know about chronic renal failure in young adults? I. Primary renal disease.
        Pediatr Nephrol. 2009; 24: 1913-1919https://doi.org/10.1007/s00467-008-1108-3
        • Harambat J.
        • Van Stralen K.J.
        • Kim J.J.
        • Tizard E.J.
        Epidemiology of chronic kidney disease in children.
        Pediatr Nephrol. 2012; 27: 363-373https://doi.org/10.1007/s00467-011-1939-1
        • Vivante A.
        • Hildebrandt F.
        Exploring the genetic basis of early-onset chronic kidney disease.
        Nat Rev Nephrol. 2016; 12: 133-146https://doi.org/10.1038/nrneph.2015.205
        • Devuyst O.
        • Knoers N.V.A.M.
        • Remuzzi G.
        • Schaefer F.
        Rare inherited kidney diseases: challenges, opportunities, and perspectives.
        Lancet. 2014; 383: 1844-1859https://doi.org/10.1016/S0140-6736(14)60659-0
        • Ochoa B.
        The urofacial (Ochoa) syndrome revisited.
        J Urol. 1992; 148: 580-583
        • Ochoa B.
        Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.
        Pediatr Nephrol. 2004; 19: 6-12https://doi.org/10.1007/s00467-003-1291-1
        • Elejalde B.R.
        Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “The Ochoa syndrome”.
        Am J Med Genet. 1979; 3 ([doi]): 97-108https://doi.org/10.1002/ajmg.1320030114
        • Ochoa B.
        • Gorlin R.J.
        Urofacial (Ochoa) Syndrome. 1987; 667: 661-667
        • Ochoa B.
        El síndrome de Ochoa. Cirugía y Urol. pediátrica en Colomb. pasado, Present. y Futur. y los cambios curriculares que le dieron vida.
        1st ed. Editorial Universidad de Antioquia, Medellin2016: 82-85
        • Teebi A.S.
        • Farag T.I.
        • El-Khalifa M.Y.
        • Besisso M.S.
        • Al-Ansari a. G.
        Urofacial syndrome.
        Am J Med Genet. 1989; 34: 608https://doi.org/10.1002/ajmg.1320340432
        • Daly S.B.
        • Urquhart J.E.
        • Hilton E.
        • McKenzie E.A.
        • Kammerer R.A.
        • Lewis M.
        • et al.
        Mutations in HPSE2 cause urofacial syndrome.
        Am J Hum Genet. 2010; 86: 963-969https://doi.org/10.1016/j.ajhg.2010.05.006
        • Wang C.Y.
        • Huang Y.Q.
        • Shi J Da
        • Marron M.P.
        • Ruan Q.G.
        • Hawkins-Lee B.
        • et al.
        Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.
        Am J Med Genet. 1999; 84: 454-459https://doi.org/10.1002/(SICI)1096-8628(19990611)84:5<454::AID-AJMG9>3.0.CO;2-D
        • Wang C.Y.
        • Hawkins-Lee B.
        • Ochoa B.
        • Walker R.D.
        • She J.X.
        Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.
        Am J Hum Genet. 1997; 60: 1461-1467https://doi.org/10.1086/515469
        • Wang C.-Y.
        • Davoodi-Semiromi A.
        • Shi J.-D.
        • Yang P.
        • Huang Y.-Q.
        • Agundez J.A.G.
        • et al.
        High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.
        Am J Med Genet. 2003; 119A: 9-14https://doi.org/10.1002/ajmg.a.20042
        • Pang J.
        • Zhang S.
        • Yang P.
        • Hawkins-Lee B.
        • Zhong J.
        • Zhang Y.
        • et al.
        Loss-of-Function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
        Am J Hum Genet. 2010; 86: 957-962https://doi.org/10.1016/j.ajhg.2010.04.016
        • Stuart H.M.
        • Roberts N.A.
        • Burgu B.
        • Daly S.B.
        • Urquhart J.E.
        • Bhaskar S.
        • et al.
        LRIG2 mutations cause urofacial syndrome.
        Am J Hum Genet. 2013; 92: 259-264https://doi.org/10.1016/j.ajhg.2012.12.002
        • Guo C.
        • Kaneko S.
        • Sun Y.
        • Huang Y.
        • Vlodavsky I.
        • Li X.
        • et al.
        A mouse model of urofacial syndrome with dysfunctional urination.
        Hum Mol Genet. 2014; 24: 1991-1999https://doi.org/10.1093/hmg/ddu613
        • McKenzie E.
        • Tyson K.
        • Stamps A.
        • Smith P.
        • Turner P.
        • Barry R.
        • et al.
        Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.
        Biochem Biophys Res Commun. 2000; 276: 1170-1177https://doi.org/10.1006/bbrc.2000.3586
        • Levy-Adam F.
        • Feld S.
        • Cohen-Kaplan V.
        • Shteingauz A.
        • Gross M.
        • Arvatz G.
        • et al.
        Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity.
        J Biol Chem. 2010; 285: 28010-28019https://doi.org/10.1074/jbc.M110.116384
        • Stuart H.M.
        • Roberts N.A.
        • Hilton E.N.
        • McKenzie E.A.
        • Daly S.B.
        • Hadfield K.D.
        • et al.
        Urinary tract effects of HPSE2 mutations.
        J Am Soc Nephrol. 2014; 26: 797-804https://doi.org/10.1681/ASN.2013090961
        • Roberts N.A.
        • Woolf A.S.
        • Stuart H.M.
        • Thuret R.
        • McKenzie E.A.
        • Newman W.G.
        • et al.
        Heparanase 2, Mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.
        Hum Mol Genet. 2014; 23: 4302-4314https://doi.org/10.1093/hmg/ddu147
        • Guo D.
        • Holmlund C.
        • Henriksson R.
        • Hedman H.
        The LRIG gene family has three vertebrate paralogs widely expressed in human and mouse tissues and a homolog in Ascidiacea.
        Genomics. 2004; 84: 157-165https://doi.org/10.1016/j.ygeno.2004.01.013
        • Homma S.
        • Shimada T.
        • Hikake T.
        • Yaginuma H.
        Expression pattern of LRR and Ig domain-containing protein (LRRIG protein) in the early mouse embryo.
        Gene Expr Patterns. 2009; 9: 1-26https://doi.org/10.1016/j.gep.2008.09.004
        • de Groat W.C.
        • Griffiths D.
        • Yoshimura N.
        Neural control of the lower urinary tract.
        Comp Physiol. 2015; 5: 327-396https://doi.org/10.1002/cphy.c130056
        • Burnett AL
        • Calvin DC
        • Chamness SL
        • Liu JX
        • Nelson RJ
        • Klein SL
        • et al.
        Urinary bladder-urethral sphincter dysfunction in mice with targeted disruption of neuronal nitric oxide synthase models idiopathic voiding disorders in humans.
        Nat Med. 1997; 3: 571-574https://doi.org/10.1038/nm0597-571
        • Griffiths D.
        Neural control of micturition in humans: a working model.
        Nat Rev Urol. 2015; 12: 695-705https://doi.org/10.1038/nrurol.2015.266
        • Tu Y.
        • Yang P.
        • Yang J.
        • Xu Y.
        • Xiong F.
        • Yu Q.
        • et al.
        Clinical and genetic characteristics for the urofacial syndrome (UFS).
        Int J Clin Exp Pathol. 2014; 7: 1842-1848
        • Roberts N.A.
        • Hilton E.N.
        • Woolf A.S.
        From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.
        Nephrol Dial Transplant. 2016; 31: 534-540https://doi.org/10.1093/ndt/gfv309
        • Roberts N.A.
        • Hilton E.N.
        • Lopes F.M.
        • Singh S.
        • Randles M.J.
        • Gardiner N.J.
        • et al.
        Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
        Kidney Int. 2019; : 1-15https://doi.org/10.1016/j.kint.2018.11.040
        • Manak I.
        • Woolf A.S.
        • Gurney A.M.
        • Mccloskey K.D.
        • Roberts N.A.
        Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.
        Neurourol Urodyn. 2020; 39: 1930-1938https://doi.org/10.1002/nau.24450
        • Holmlund C.
        • Nilsson J.
        • Guo D.
        • Starefeldt A.
        • Golovleva I.
        • Henriksson R.
        • et al.
        Characterization and tissue-specific expression of human LRIG2.
        Gene. 2004; 332: 35-43https://doi.org/10.1016/j.gene.2004.02.002
        • Woolf A.S.
        • Stuart H.M.
        • Roberts N.A.
        • McKenzie E.A.
        • Hilton E.N.
        • Newman W.G.
        Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.
        Pediatr Nephrol. 2014; 29: 513-518https://doi.org/10.1007/s00467-013-2552-2
        • Mermerkaya M.
        • Süer E.
        • Öztürk E.
        • Gülpınar Ö.
        • Gökçe M.İ.
        • Yalçındağ F.N.
        • et al.
        Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign.
        Eur J Pediatr. 2013; 173: 661-665https://doi.org/10.1007/s00431-013-2172-7
        • Garcia-Minaur S.
        • Oliver F.
        • Yanez J.M.
        • Soriano J.R.
        • Quinn F.
        • Reardon W.
        Three new European cases of urofacial (Ochoa) syndrome.
        Clin Dysmorphol. 2001; 10: 165-170https://doi.org/10.1097/00019605-200107000-00002
        • Mahmood S.
        • Beetz C.
        • Tahir M.M.
        • Imran M.
        • Mumtaz R.
        • Bassmann I.
        • et al.
        First HPSE2 missense mutation in urofacial syndrome.
        Clin Genet. 2012; 81: 88-92https://doi.org/10.1111/j.1399-0004.2011.01649.x
        • Nicanor F.A.
        • Cook A.
        • Pippi-Salle J.L.
        Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure.
        Int Braz J Urol. 2005; 31: 477-481https://doi.org/10.1590/S1677-55382005000500012
        • Potter E.L.
        Facial characteristics of infants with bilateral renal agenesis.
        Am J Obstet Gynecol. 1946; 51: 885-888https://doi.org/10.1016/S0002-9378(16)39968-9
        • Schmidt W.
        • Schroeder T.M.
        • Buchinger G.
        • Kubli F.
        Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.
        Clin Genet. 1982; 22: 105-127https://doi.org/10.1111/j.1399-0004.1982.tb01422.x
        • Potter E.L.
        Bilateral renal agenesis.
        J Pediatr. 1946; 29: 68-76
        • Wang R.Y.
        • Earl D.L.
        • Ruder R.O.
        • Graham J.M.
        Syndromic ear anomalies and renal ultrasounds.
        Pediatrics. 2001; 108: E32https://doi.org/10.1542/peds.108.2.e32
        • Chaouadi D.
        • Cheikhelard A.
        • Teklali Y.
        • Mure P.Y.
        • Mouriquand P.
        Early elimination dysfunction associated with cephalic anomalies: is there a link?.
        J Pediatr Urol. 2009; 5: 8-12https://doi.org/10.1016/j.jpurol.2008.09.008
        • Harkness J.R.
        • Beaman G.M.
        • Teik K.W.
        • Sidhu S.
        • Sayer J.A.
        • Cordell H.J.
        • et al.
        Early B-cell factor 3-related genetic disease can mimic urofacial syndrome.
        Kidney Int Reports. 1823; 5: 1823-1827https://doi.org/10.1016/j.ekir.2020.07.001
        • Sinha R.
        • Banerji N.
        • Saha S.
        Recurrent UTI – make the child Smile !.
        Indian Pediatr. 2018; 55: 169
        • Chauve X.
        • Missirian C.
        • Malzac P.
        • Girardot L.
        • Guys J.M.
        • Louis C.
        • et al.
        Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.
        Am J Med Genet. 2000; 95: 10-12https://doi.org/10.1002/1096-8628(20001106)95:1<10::AID-AJMG3>3.0.CO;2-Z
        • Bacchetta J.
        • Cochat P.
        Severe voiding dysfunction: ask the child to smile.
        Kidney Int. 2010; 78: 225-226https://doi.org/10.1038/ki.2010.144
        • Derbent M.
        • Melek E.
        • Arman A.
        • Uçkan S.
        • Baskin E.
        Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?.
        Ren Fail. 2009; 31: 589-592https://doi.org/10.1080/08860220903003370
        • Ganesan I.
        • Thomas T.
        More than meets the smile: facial muscle expression in children with Ochoa syndrome.
        Med J Malaysia. 2011; 66: 507-509
        • Penna F.J.
        • Elder J.S.
        CKD and bladder problems in children.
        Adv Chron Kidney Dis. 2011; 18: 362-369https://doi.org/10.1053/j.ackd.2011.08.001
        • Velez-Tejada P.
        • Niño-Serna L.
        • Serna-Higuita L.M.
        • Serrano-Gayubo A.K.
        • Vélez-Echeverri C.
        • Vanegas-Ruiz J.J.
        • et al.
        Evolución de los pacientes pediátricos con diagnóstico de hidronefrosis que consultaron al Hospital Universitario San Vicente Fundación, medellín, Colombia, entre 1960 y 2010.
        Iatreia. 2019; 27: 147-154
        • Andrew J.C.
        • Jason P.V.B.
        • Jennifer C.
        • Kenneth I.G.
        Dysfunctional elimination syndromes: how closely linked are constipation and encopresis with specific lower urinary tract conditions?.
        J Urol. 2013; 190: 1015-1020https://doi.org/10.1016/j.juro.2013.03.111
        • Koff S.A.
        • Wagner T.T.
        • Jayanthi V.R.
        The relationship among dysfunctional elimination syndromes, primary vesicoureteral reflux and urinary tract infections in children.
        J Urol. 1998; 160: 1019-1022https://doi.org/10.1016/S0022-5347(01)62686-7
        • Van Den Berg M.M.
        • Benninga M.A.
        • Di Lorenzo C.
        Epidemiology of childhood constipation: a systematic review.
        Am J Gastroenterol. 2006; 101: 2401-2409https://doi.org/10.1111/j.1572-0241.2006.00771.x
        • Sampaio C.
        • Sousa A.S.
        • Fraga L.G.A.
        • Veiga M.L.
        • Bastos Netto J.M.
        • Barroso U.
        Constipation and lower urinary tract dysfunction in children and adolescents: a population-based study.
        Front Pediatr. 2016; 4: 1-6https://doi.org/10.3389/fped.2016.00101
        • Peeters B.
        • Benninga M.a.
        • Hennekam R.C.
        Childhood constipation; an overview of genetic studies and associated syndromes.
        Best Pract Res Clin Gastroenterol. 2011; 25: 73-88https://doi.org/10.1016/j.bpg.2010.12.005
        • Latkany R.L.
        • Lock B.
        • Speaker M.
        Nocturnal lagophthalmos: an overview and classification.
        Ocul Surf. 2006; 4: 44-53
        • Newman W.G.
        • Woolf A.S.
        • Stuart H.M.
        Urofacial syndrome.
        in: Pagon R.A. Adam M.P. Ardinger H.H. Wallace S.E. Amemiya A. Bean L.J. GeneReviews. 2013
        • Bertolotti A.
        • Tobia González S.
        • Etcheverry R.
        Síndrome de Ochoa en Argentina.
        Cir Pediatr. 2007; 20: 54-56
        • Rondon A.V.
        • Leslie B.
        • Netto J.M.B.
        • Freitas RG De
        • Ortiz V.
        • Macedo Junior A.
        The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.
        Einstein (São Paulo). 2015; 13 (00–00): 279-282https://doi.org/10.1590/S1679-45082015RC2990
        • Barretto N.J.L.
        • Molina C.A.F.
        • Cassini M.F.
        • Facincani I.
        • Miyada F.
        • Barretto N.C.L.
        • et al.
        Ochoa syndrome - a twins case report.
        Surg Sci. 2014; 5: 210-213
        • Gomes D.M.
        • Costa de Oliveira C.M.
        • Santos DC. de O.
        • Cerqueira J.B.G.
        • Mota M.U.
        • Andrade S.C.A.
        • et al.
        Kidney transplantation in a patient with Ochoa's syndrome and chronic renal failure – a case report.
        JBT J Bras Transpl. 2011; 14: 1523-1526
        • Escala J.M.
        • Castillo R.
        • Zubieta R.
        • Ramirez R.
        Sindrome Urofacial de Ochoa en Chile.
        Rev Cir Infant. 1997; 7: 116-118
        • Skalova S.
        • Rejtar I.
        • Novak I.
        • Juttnerova V.
        The urofacial (Ochoa) syndrome--first case in the central European population.
        Prague Med Rep. 2006; 107: 125-129
        • Sutay N.R.
        • Kulkarni R.
        • Arya M.K.
        Ochoa or urofacial syndrome.
        Indian Pediatr. 2010; 47: 445-446https://doi.org/10.1007/s13312-010-0067-5
        • Akl K.F.
        • Al Momany H.M.
        Urofacial syndrome.
        Saudi J Kidney Dis Transpl. 2012; 23: 346-348
        • Stamatiou K.
        • Tyritzis S.
        • Karakos C.
        • Skolarikos a
        Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes?.
        Urology. 2011; 78: 911-913https://doi.org/10.1016/j.urology.2010.12.061
        • Vivante A.
        • Hwang D.-Y.
        • Kohl S.
        • Chen J.
        • Shril S.
        • Schulz J.
        • et al.
        Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract.
        J Am Soc Nephrol. 2017; 28: 69-75https://doi.org/10.1681/ASN.2015080962
        • Infante J.R.
        • Rayo J.I.
        • Serrano J.
        • Domínguez M.L.
        • García L.
        • Durán C.
        Scintigraphy in ochoa syndrome.
        Clin Nucl Med. 2013; 38: 564-565https://doi.org/10.1097/RLU.0b013e318286bdd2
        • Ágreda F.
        • Gasanz C.
        • Lorente D.
        • Allue M.
        • Servián P.
        • Morote J.
        Sindrome De Ochoa.
        Annal d’Urol. 2013; : 25
        • Manuel J.
        • Prieto C.
        • Calvo M.G.
        • Calvo M.G.
        Look beyond a strange smile: a clue to renal disease.
        J Pediatr. 2017; 191 (276.e1): 276https://doi.org/10.1016/j.jpeds.2017.08.024
        • Al-Qahtani F.N.
        Ochoa syndrome: new features.
        Saudi J Kidney Dis Transpl. 2003; 14: 61-64
        • Al Badr W.
        • Al Bader S.
        • Otto E.
        • Hildebrandt F.
        • Ackley T.
        • Peng W.
        • et al.
        Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
        J Pediatr Urol. 2011; 7: 569-573https://doi.org/10.1016/j.jpurol.2011.02.034
        • Fadda A.
        • Butt F.
        • Tomei S.
        • Deola S.
        • Lo B.
        • Robay A.
        • et al.
        Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
        BMC Med Genet. 2016; 17: 84https://doi.org/10.1186/s12881-016-0346-7
        • Aydogdu O.
        • Burgu B.
        • Demirel F.
        • Soygur T.
        • Ozcakar Z.B.
        • Yalcinkaya F.
        • et al.
        Ochoa syndrome: a spectrum of urofacial syndrome.
        Eur J Pediatr. 2010; 169: 431-435https://doi.org/10.1007/s00431-009-1042-9
        • Emir S.
        • Kan R.
        • Demir H.A.
        • Çakar N.
        • Güler M.
        Occurrence of wilms tumor in a child with urofacial (OCHOA) syndrome.
        Pediatr Hematol. 2011; 28: 616-618https://doi.org/10.3109/08880018.2011.600803
        • Özçakar Z.B.
        • Burgu B.
        • Altugan F.Ş.
        • Fitöz S.
        • Ekim M.
        • Soygür T.
        • et al.
        Neurogenic bladder in twins: answer.
        Pediatr Nephrol. 2009; 1–3https://doi.org/10.1007/s00467-009-1280-0
        • Bulum B.
        • Özçakar Z.B.
        • Duman D.
        • Cengiz F.B.
        • Kavaz A.
        • Burgu B.
        • et al.
        HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.
        Nephron. 2015; 130: 54-58https://doi.org/10.1159/000381465