title: Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
abstract: Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
authors.affiliation: Hospital São Geraldo, Department of Ophthalmology, Federal University of Minas Gerais, Mashhad, Brasil. frasson@task.com.br
authors.forename: Maria
authors.initials: M
authors.lastname: Frasson
authors.forename: Nassim
authors.initials: N
authors.lastname: Calixto
authors.forename: Sebastião
authors.initials: S
authors.lastname: Cronemberger
authors.forename: Regina Amélia Lopes Pessoa
authors.initials: RA
authors.lastname: de Aguiar
authors.forename: Letícia Lima
authors.initials: LL
authors.lastname: Leão
authors.forename: Marcos José Burle
authors.initials: MJ
authors.lastname: de Aguiar
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D003241:Consanguinity; D003744:Dental Enamel Hypoplasia / Q000235:genetics* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive / Q000502:physiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013576:Syndactyly / Q000235:genetics* / Q000473:pathology