Audiological findings in an Indian child with Johanson-Blizzard syndrome: a case report

Abstract

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder characterized by multi-system involvement and facial dysmorphic features. Sensorineural hearing loss is one of the most common manifestations of this pathology. Detailed audiological evaluation in confirmed cases of JBS is essential for the appropriate management of hearing loss. We present the audiological features of a six-year-old Indian girl with Johanson-Blizzard syndrome along with the less emphasized association of café-au-lait spots with JBS.

Keywords

Autosomal recessive / sensorineural hearing loss / café-au-lait spots

References

[1] Johanson A.A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.J Pediatr1971;79:982-7

[2] Gershoni-Baruch R,Braun J,Iancu TC.Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome.Am J Med Genet1990;35:546-51

[3] Hurst JA.Johanson-Blizzard syndrome.J Med Genet1989;26:45-8 PMCID:PMC1015535

[4] Godbole K,Leena H.Johanson-blizzard syndrome.Indian Pediatr2013;50:510-2

[5] NORD. Synonyms of Johanson-Blizzard syndrome. Available from: https://rarediseases.org/rare-diseases/johanson-blizzard-syndrome/ [Last accessed on 24 May 2022]

[6] Holcomb MA,Morris NS.Bilateral cochlear implantation in a child with Johanson Blizzard syndrome.Int J Pediatr Otorhinolaryngol2017;95:69-71

[7] Chugunova TI,Markova TG,Zherenkova VV.Johanson-Blizzard syndrome: audiological features and results of cochlear implantation.Vestn Otorinolaringol2014;(2):90-2

[8] Rosanowski F,Hies T.[Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness].HNO1998;46:876-8

[9] Ramos S,Ramos RF,Ramos BF.Johanson-Blizzard syndrome.Braz J Otorhinolaryngol2010;76:794

[10] Alwadee RM,Yousef EM.Performance of children with Johanson-Blizzard syndrome after cochlear implantation.Cureus2021;13:e19264 PMCID:PMC8571962

[11] Northern JL. Hearing in children. 5th ed. PA: Lippincott Williams & Wilkins; 2002. Available from: https://books.google.com.hk/books?hl=zh-CN&lr=&id=1CUFXsBbBgoC&oi=fnd&pg=PR5&dq=Northern+JL,+Downs+MP.+Hearing+in+children.+5th+ed.+PA:+Lippincott+Williams+%26+Wilkins%3B+2002.&ots=HXI24jmFCf&sig=NbqrT2ITMFZL5FPRENwfBgiUy9M&redir_esc=y#v=onepage&q=Northern%20JL%2C%20Downs%20MP.%20Hearing%20in%20children.%205th%20ed.%20PA%3A%20Lippincott%20Williams%20%26%20Wilkins%3B%202002.&f=false [Last accessed on 24 May 2022]

[12] Aubrey S,Rashid M.Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome.Eur J Clin Nutr2013;67:1118

[13] Zenker M,Lerch MM.Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).Nat Genet2005;37:1345-50

[14] Atik T,Sukalo M,Ozkinay F.Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: a mild phenotype without mental retardation.Gene2015;570:153-5

[15] Moeschler JB.Johanson-Blizzard syndrome with normal intelligence.Am J Med Genet1985;22:69-73