Mohr Syndrome- A Rare Case Report

Authors

  • Dr. Akshita Kansal DVVPFs Medical College and Hospital, Ahilyanagar-414111
  • Dr. V. G. Deshpande
  • Dr. Poonam Patil
  • Dr. Suresh Waydande
  • Dr. Sunil Natha M haske

DOI:

https://doi.org/10.46858/vimshsj.110406

Keywords:

Orofaciodigital syndrome, Mohr syndrome, Lobulated tongue, Typical facies, Post and preaxial polydactyly

Abstract

An orofaciodigital syndromes (OFDS) is a rare genetic disorder with diverse collection of abnormalities, mainly affecting the face, oral cavity and digits. Orofacial digital syndrome type II, also called the “Mohr syndrome” is a very rare subtype of OFDS. We report a case of 1-year-old male child presented to Paediatric outpatient department with complaints of syndactyly along with polydactyly associated with characteristic features of OFDS type II. Considering the overlapping clinical features, it is important to establish a correct diagnosis by distinguishing appropriate features.

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References

Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics 2007 Dec 15;143A(24):3314-23.

Abuhamda AF, Elsous A. Oro-Facial-Digital Syndrome Type II (Mohr Syndrome) in Palestine. Ann Clin Lab Res. 2018;6(4):259.

Mohr OL. A hereditary lethal syndrome in man. Avh. Norske Videnskad. Oslo 1941;14:1-18.

Annerén G, Gustavson KH, Jozwiak S, Kjartansson S, Strömberg B. Abnormalities of the cerebellum in oro?facio?digital syndrome II (Mohr syndrome). Clinical genetics. 1990 Jul;38(1):69-73..

F. Majewski, R. A. Pfeiffer, W. Lenz, R. Müller, G. Feil, and R. Seiler, “Polysyndactyly, short limbs, and genital malformations—a new syndrome?” Zeitschrift für Kinderheilkunde, vol. 111, no. 2, pp. 118–138,

M. Baraitser, “The orofaciodigital (OFD) syndromes,” Journal of Medical Genetics, vol. 23, no. 2, pp. 116–119, 1986

G. Neri, F. Gurrieri, and M. Genuardi, “Oral-facial-skeletal syndromes,” American Journal of Medical Genetics, vol. 59, no. 3, pp. 365–368, 1995

Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in the oral-facial-digital syndromes. The Journal of Pediatrics. 1967 Jul 1;71(1):94-102.

D. Chitayat, H. J. Stalker, and E. M. Azouz, “Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?” The American Journal of Medical Genetics, vol. 44, no. 5, pp. 567–572, 1992.

Haumont D, Pelc S. The Mohr syndrome: are there two variants?. Clinical Genetics. 1983 Jul;24(1):41-6..

R. J. Gorlin, M. M. Cohen, and R. C. M. Hennekam, Syndromes of the Head and Neck, Oxford University Press, New York, NY, USA, 4th edition, 2001.

Bita Malekianzadeh, Fardis Vosoughi, Ramin Zargarbashi. Orofaciodigital syndrome type II (Mohr syndrome. BMC Musculoskeletal Disorders. 2020;21:793.

Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Journal of medical genetics. 2017 Jun 1;54(6):371-80..

Ferrante MI, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Malcolm S. Identification of the gene for oral-facial-digital type I syndrome. The American Journal of Human Genetics. 2001 Mar 1;68(3):569-76..

Naiboglu B, Oysu C, Gokceer T. Orofaciodigital syndrome. Ear Nose Throat J 2012; 91: E8-9.

Siebert JR. The oral-facial-digital syndromes. Handb Clin Neurol. 2008,87:341-51.

Bala R, Hazarika A, Pandia MP, Kumar N. High arch palate: a bande for ProSeal laryngeal mask airway but a boon for I-gel. J Anaesthesiol Cli Pharmacol.2015;31(4):568.

Tsukamoto M, Hitosugi T, Yamanaka H, Yokoyama T. Bifid epiglottis, high arched palate and mental disorder in patient with Pallister hall syndrome. Ind J Anaesht. 2018;62(10):825-27.

Published

2025-01-06

How to Cite

Kansal, D. A., Deshpande , D. V. G., Patil, D. P. ., Waydande, D. S. ., & haske, D. S. N. M. (2025). Mohr Syndrome- A Rare Case Report. VIMS Health Science Journal, 11(4), 32–34. https://doi.org/10.46858/vimshsj.110406

Issue

Section

Case Report

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