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Year : 1999  |  Volume : 45  |  Issue : 4  |  Page : 123-4

Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1.

Bai Jerbai Wadi Hospital for Children, Parel, Mumbai, India. , India

Correspondence Address:
H S Hosalkar
Bai Jerbai Wadi Hospital for Children, Parel, Mumbai, India.
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Source of Support: None, Conflict of Interest: None

PMID: 0010734352

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 :: Abstract 

In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 and type 2, it is important to establish a correct diagnosis in these patients. A case of type II oro-facio-digital syndrome is being reported and the distinguishing clinicoradiological features with type I are compared.

Keywords: Case Report, Child, Female, Human, Orofaciodigital Syndromes, diagnosis,

How to cite this article:
Hosalkar H S, Shah H, Gujar P, Kulkarni A, Yagnik M G. Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. J Postgrad Med 1999;45:123

How to cite this URL:
Hosalkar H S, Shah H, Gujar P, Kulkarni A, Yagnik M G. Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. J Postgrad Med [serial online] 1999 [cited 2023 May 28];45:123. Available from:

The Mohr syndrome or oro-facial-digital syndrome type II (OFD-II)] is characterised by a lobulate tongue, midline cleft of lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss and normal intelligence. The bifid great toe, one of the features that distinguishes OFD II3 from OFD I, may not extend to the soft tissue, in which case it will only be seen by radiological examination.

  ::   Case report Top

A seven-year-old girl born out of non-consanguineous marriage as the second child of a 36-year-old mother and 42-year-old father. The earlier sibling had died as a stillbirth. This girl was born at full term, uneventful pregnancy, no prenatal and perinatal complications, weighed 4400 gms.

On clinical examination, child had mental retardation with mandibular hypoplasia, lobulated tongue, low set ears [Figure - 1]. Patient had polydactyly of both hands and feet, preaxial in feet and postaxial in hands [Figure - 2]. On further clinico-radiological examination, cardiac anomaly in the form of atrial septal defect (ASD) and bilateral conductive deafness was present.

  ::   Discussion Top

In 1941 Mohr[3] described a family in which male proband had OFD malformation including a high arched palate, lobulate tongue with papilliform outgrowths, a broad root of nose and "ocular hypertelorism". Syndactyly, brachydactyly and polydactyly of hands and feet were also present. Most characteristic feature was polysyndactyly of the great toes. This child had three brothers who had more limited malformations of oral cavity and digits. Mohr concluded that this syndrome was due to a sex linked recessive sublethal gene.

These patients apparently have normal intelligence and plastic surgery is indicated for cleft lip or palate, hypertrophied frenula and partial reduplication of the hallux. A surgical attempt to reconstruct the auditory ossicles should be made to improve the conduction deafness. Early accurate diagnosis is important from a genetic counselling point of view, since it implies a one in four risk of recurrence.

In conclusion, Mohr syndrome (OFD II) appears to be much rarer than OFD I. It can be easily confused with OFD I. Therefore distinction between these two syndromes has important implications in genetic counselling.

 :: References Top

1.Doege TC, Thuline HC, Priest JH. Studies of a family with OFD syndrome. New England J Med 1964; 271:1073.  Back to cited text no. 1    
2.Gorlin RJR, Pindburg JJ. Syndromes of Head and Neck. 2nd edition; 1954; 209.  Back to cited text no. 2    
3.Mohr OL. A hereditary sublethal syndrome in man Skr. Norske Vidensk Akad 1. Mat Naturv Klasse 1941; 14:3-17.  Back to cited text no. 3    
4.Rimoin DL, Edgarton MT. Genetic and clinical heterogenity in the oral-facial digital syndrome. J Paediatrics 1907; 71:94-102.  Back to cited text no. 4    
5.Anneren GB, Arvidson K. Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet 1984; 26:178-186.  Back to cited text no. 5    
6.Anneren G, Gustavson H. Abnormalities of the cerebellum in oro-facio-digital syndrome II. Clin Genet 1990; 38:69-73.   Back to cited text no. 6    


[Figure - 1], [Figure - 2]


[Table - 1]

This article has been cited by
1 Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I
Romero M, Franco B, del Pozo JS, et al.
2 Report of a new syndrome: Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes
Ghosh S, Setty S, Sivakumar A, et al.


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2004 - Journal of Postgraduate Medicine
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