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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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Year : 2014  |  Volume : 32  |  Issue : 4  |  Page : 350-352

Clinical manifestations of oculodentodigital dysplasia

1 Department of Pediatric and Preventive Dentistry, Indira Gandhi Institute of Dental Sciences, Puducherry, India
2 Department of Dentistry, Sri Lakshminarayana Institute of Medical Sciences, Puducherry, India
3 Department of Oral and Maxillofacial Pathology, Krishnadevaraya College of Dental Sciences, Bengaluru, Karnataka, India

Date of Web Publication17-Sep-2014

Correspondence Address:
Gurusamy Kayalvizhi
Department of Pediatric and Preventive Dentistry, Indira Gandhi Institute of Dental Sciences, (MGMCRI campus), Pillaiyarkuppam, Puducherry
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-4388.140973

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Oculodentodigital dysplasia (ODDD) is a multisystem congenital disorder characterized by abnormal facial development, deformed limbs and dentition. This report describes a rare incidence of ODDD-linked dermatological, cardiac, dental, and neurologic manifestations noted in an Indian child patient.

Keywords: Autosomal dominant, camptodactyly, craniofacial, oculodentodigital dysplasia, ophthalmic, syndactyly, syndrome

How to cite this article:
Kayalvizhi G, Subramaniyan B, Suganya G. Clinical manifestations of oculodentodigital dysplasia . J Indian Soc Pedod Prev Dent 2014;32:350-2

How to cite this URL:
Kayalvizhi G, Subramaniyan B, Suganya G. Clinical manifestations of oculodentodigital dysplasia . J Indian Soc Pedod Prev Dent [serial online] 2014 [cited 2022 Nov 27];32:350-2. Available from: http://www.jisppd.com/text.asp?2014/32/4/350/140973

   Introduction Top

Oculodentodigital dysplasia (ODDD), an autosomal dominant disorder, attributed to the mutations in the gap junction protein alpha-1 gene, that encodes for connexin-43. [1] It is marked by pleiotropic developmental anomalies of the limbs, face, teeth, and eyes. The disease is commonly caused by an autosomal dominant missense mutation, while few cases of autosomal recessive inheritance have also been reported. Around 62 mutations linked to the disease have been identified. [2],[3],[4],[5],[6],[7] Although ODDD manifests with a plethora of symptoms, its most prominent features are localized to hands, feet, facial bones, eyes, and teeth. The spectrum of abnormalities noted in connexin-43 syndromes is speculated to be due to deficient communication between neighboring cells. [3],[7]

Meyer-Schwickerath et al. have reported the condition and proposed the term "ODDD." The disease affects both men and women worldwide, however, is more common in Caucasians. Incidence and pathogenesis of ODDD remains unknown, although around 300 isolated cases have been reported in the literature. A survey of published literature shows that cases of ODDD in children are very rare. [2],[8] The present case study highlights the diverse clinical manifestations observed in a child with ODDD.

   Case Report Top

A 5-year-old boy reported to the clinic with the chief complaint of multiple decayed teeth. His family history was noncontributory. The child was cooperative to conduct all medical examinations and his medical history disclosed that he had jaundice at birth, which was treated by phototherapy. The history also revealed the previous diagnosis with congenital heart disease with atrial septal defect, which resolved in a year without treatment.

Craniofacial and digital findings reported on extra oral examination are shown in [Table 1] and [Figure 1]a-d. Intraoral examination revealed thin enamel and dentin, multiple carious lesions and delayed eruption of teeth. Based on all these findings, a provisional diagnosis of ODDD was made, and with thorough systemic examination and further analyses ODDD was confirmed. Chromosomal analysis of the blood indicated normal male karyotype. Ophthalmic tests supported the previous clinical findings, and no abnormality was found on nerve conduction analysis. Further investigations were done to rule out other systemic involvements.
Table 1: Clinical findings of the oculodentodigital dysplasia

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Figure 1: Morphological manifestations of oculodentodigital dysplasia in the patient. (a) Cranium, (b) face, (c) eyes, and (d) digits

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Radiography of the wrist confirmed bilateral fusion of the distal phalanges and soft tissue of 3 rd , 4 th , and 5 th digits and hypoplasia of the middle phalanx of the little finger. These findings suggested bilateral syndactyly (type III) of these digits, with camptodactyly and mild clinodactyly [Figure 2]a and b. In addition, coronoid hypoplasia and missing lower 2 nd premolars were confirmed through orthopantomograph.
Figure 2: Radiological findings of syndactyly in digits. (a) Left hand (b) right hand

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A final diagnosis of ODDD was made by ruling out the possibility of other syndromes through proper evaluation of the history, clinical findings, investigations and other reported cases, in consultation with concerned specialists. Multidisciplinary approach was planned and executed by a team of specialists. Medical records revealed that the child was using eye drops for chronic uveitis, and special eyeglasses for correcting hypermetropia. Corrective surgery for bilateral syndactyly release had been performed around 2 years earlier, and the patient was scheduled to undergo surgical correction of camptodactyly and clinodactyly shortly. Full mouth rehabilitation was done to correct the dental problems over a period of 1 year. Periodic dental check-ups were performed, and the patient was closely monitored for other ailments.

   Discussion Top

Differential diagnosis of ODDD includes orofaciodigital syndrome, Hallermann-Streiff syndrome and Axenfeld-Rieger syndrome. [2],[3] The dysmorphic features noted in the present case are typical for ODDD and are concordant with earlier descriptions of the syndrome. [6]

In a previous case study, Paznekas et al.[4] have observed that the ODDD syndrome is more common in Indo-Europeans compared to Asian or African population, and the sex ratio (male:female) was close to 1:1 in familial cases, and 6:15 in sporadic cases. They have attributed it to the risk of male embryonic lethality or greater societal recognition of female facial differences. The condition is more commonly reported in the second decade of life, and very few cases have been identified in younger patients. [2],[3] Hence, the present case merits to be considered as "very rare," as the patient is a male child of Indian origin. The patient also had a medical history of heart disease, and this association is substantiated by the findings of Kalcheva et al.[9] Their study, carried out in a murine model of ODDD, reported that gap junction remodeling induced by mutations in the connexin-43 gene is associated with enhanced arrhythmic risk.

Digital malformations are more common in ODDD patients, and among them, complete and bilateral syndactyly between the fourth and fifth fingers is considered as the characteristic anomaly. [6] Syndactyly comprises of bony or soft tissue fusion with complete or partial fusion of the digits. Prevalence of syndactyly of the feet has been reported to be around 25% in ODDD patients, and 40% in families. [5] However, the current patient did not have any involvement of the toe.

Dermatological and neurological abnormalities are relatively rare in ODDD, and in most cases, they often go unnoticed. No such aberrations were observed with this patient, and his parents were counseled on the elevated risk of developing neurological signs and symptoms at a later stage in the adulthood. [4],[10]

Management of ODDD includes treatment plans for all the affected organs. Dental treatment plan for ODDD, including preventive and therapeutic interventions should be formulated on the basis of patient's age, and teeth affected. Preventive procedures like caries control, topical fluorides, pit and fissure sealants, and preventive resin restorations should be initiated as early as possible. Therapeutic approach includes restoration of carious teeth, performing root canal treatment, extractions, and placement of crown and space maintainers. The most frequent cause for the loss of visual acuity in ODDD is glaucoma. Hence, periodic ophthalmic follow-up is inevitable. Patient with ODDD and relatives should be properly counseled and motivated for their cooperation during the course of treatment as it involves multiple follow-ups and consultation with different specialists.

   Conclusion Top

Oculodentodigital dysplasia poses a diagnostic challenge as it involves a wide spectrum of symptoms and shows great intra- and inter-familial phenotypic variability. A multidisciplinary approach is warranted for early diagnosis of ODDD and to customize the treatment strategies to avoid future complications, particularly, those related to neurological, dental, ophthalmic, and audiological systems.

   Acknowledgment Top

We would like to thank the child and the parent for their full cooperation.

   References Top

1.Flenniken AM, Osborne LR, Anderson N, Ciliberti N, Fleming C, Gittens JE, et al. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Development 2005;132:4375-86.  Back to cited text no. 1
2.Gorlin RJ, Cohen MM, Hennekam RC. Syndromes affecting bone: Craniotubular bone disorders, Oculodentodigitaldysplasia. In: Gorlin RJ, Cohen MM, Hennekam RC, editors. Syndromes of the Head and Neck. 4 th ed. New York: Oxford University; 2001. p. 290-2.  Back to cited text no. 2
3.Mubeen K, Vijyalakshmi KR, Ohri N. ODDD - An interesting case. Arch Oral Sci Res 2011;1:26-9.  Back to cited text no. 3
4.Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408-18.  Back to cited text no. 4
5.Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, et al. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009;30:724-33.  Back to cited text no. 5
6.Richardson R, Donnai D, Meire F, Dixon MJ. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet 2004;41:60-7.  Back to cited text no. 6
7.Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol 2006;16:241-5.  Back to cited text no. 7
8.Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M, Oskouei SG. Oculodentodigital dysplasia: Disease spectrum in an eight-year-old boy, his parents and a sibling. J Clin Pediatr Dent 2009;33:337-41.  Back to cited text no. 8
9.Kalcheva N, Qu J, Sandeep N, Garcia L, Zhang J, Wang Z, et al. Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. Proc Natl Acad Sci U S A 2007;104:20512-6.  Back to cited text no. 9
10.Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z. Dental management of oculodentodigital dysplasia: A case report. J Oral Sci 2010;52:337-42.  Back to cited text no. 10


  [Figure 1], [Figure 2]

  [Table 1]

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