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N.S. Calixto, M. Frasson, S. Martins, S. Cronemberger, L. Leão, M.J. Aguiar; Oculodentodigital Dysplasia (Odd Syndrome): Study of Ophthalmological and Clinical Manifestations in Three Boys With Autossomal Recessive Inheritance . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3869.
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Purpose: to present three brothers with identical morphological findings of oculodentodigital dysplasia, a rare inherited disorder affecting the development of the face, eyes, teeth and limbs. Methods:the routine ocular examination was performed in the three sons of a consanguineous couple (cousins in first degree). In these patients, the following additional exams were performed: echobiometry, keratometry, clinical examination and karyotype. The three boys presented identical ophthalmologic and clinical features of oculodentodigital dysplasia. Their parents were normal. There was no similar case in the family. Results:the three boys presented: 1. Microphthalmos. 2. Cornea plana with horizontal elliptical microcornea. 3. Attenuated sclerocorneal sulcus, annular goniosynechiae. 4. Exuberant remnants of pupillary membrane (two boys). 5. Collarette, crypts and pupillary pigment border were absent. 6. Normal crystalline lens. 7. Inner telecanthus. The oldest boy, who dyed at 2 years old of pneumonia, presented inferior iris coloboma. The middle boy presented a congenital secondary glaucoma and the youngest presented ellipsoid cereus optic disc and filiform vessels, retinal pigment epithelium dystrophy-like. The dimorphism of the three boys included: prominent front skull, hypotrichosis, small and thin nose with hypoplastic aletes, olygodontia and enamel hypoplasia, cutaneous syndactyly of the feet, diffuse skeletal dysplasia, intracranial calcification. These clinical findings lead us to the diagnosis of ODD Syndrome. Normal karyotypes were found.Conclusions: we describe a family with three consecutive brothers with identical ophthalmic and clinic features compatible of an autosomal recessive inheritance. In the literature that we are able to consult very few cases of this syndrome with autosomal recessive inheritance are reported.
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