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Case Reports
. 2016 Mar;64(3):227-30.
doi: 10.4103/0301-4738.180191.

Oculodentodigital dysplasia

Dharmil C Doshi  1 , Purvi K Limdi, Nilesh V Parekh, Neepa R Gohil
Affiliations
Case Reports

Oculodentodigital dysplasia

Dharmil C Doshi et al. Indian J Ophthalmol. 2016 Mar.

Abstract

Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

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Figures

Figure 1
Figure 1
Right eye-diffuse light examination
Figure 2
Figure 2
Left eye-diffuse light examination
Figure 3
Figure 3
Face photograph: Parrot-beaked nose, hypoplastic alae nasi, small anteverted nares, prominent columella, sparse facial and scalp hair, microphthalmia with microcornea, prominent mandible and sparse, laterally absent eyebrows
Figure 4
Figure 4
Dental features: Hypodontia, microdontia, dental caries and partial anodontia
Figure 5
Figure 5
Hand features: Camptodactyly, clinodactyly and brachydactyly of 5th finger; more on left side as compared to right
Figure 6
Figure 6
Feet abnormalities: Both feet showed syndactyly of 2nd and 3rd toes
Figure 7
Figure 7
Anteroposterior view skull X-ray: Ghost like appearance (alien look) with cranial hyperostosis and broadening of mandible
Figure 8
Figure 8
X-ray wrist and hand: 5th finger camptodactyly, clinodactyly and brachydactyly type A3 with flexion deformity of metacarpophalangeal joint of both thumbs and broadening of metacarpals
Figure 9
Figure 9
X-ray anteroposterior view of feet: X-ray of both feet showed soft tissue fusion of 2nd and 3rd toes suggesting syndactyly on both sides. Bilateral widening of tarsals and metatarsals with aplasia of middle phalanx of 5th toe seen
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts