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Article
July 1974

Picture of the Month

Author Affiliations

Boston
From the Center for Genetic Counseling and Birth Defect Evaluation, Boston Floating Hospital for Infants and Children.

Am J Dis Child. 1974;128(1):81-82. doi:10.1001/archpedi.1974.02110260083015
Abstract

Denouement and Discussion 

Oculodentodigital Dysplasia 

Manifestations  Major manifestations include small, sunken eyes; microcornea; microphthalmia; malformations of the iris; enamel hypoplasia, resembling amelogenesis imperfecta; and a thin nose with hypoplastic alae and thin anteverted nostrils. Skeletal abnormalities consist of syndactyly and camptodactyly. Mid and distal phalangeal hypoplasia or aplasia of one or more fingers or toes, or both, is a constant roentgenographic finding.Associated defects include fine, dry and/or sparse and slow growing hair, hypotelorism, small palpebral fissures, epicanthic folds, glaucoma, missing teeth, microdontia, premature loss of teeth, cleft lip and palate, conductive hearing loss, broad tubular bones and mandible, wide alveolar ridge, cubitus valgus, hip dislocation, and osteopetrosis. Intellect is normal.

Genetics  Most reported cases are sporadic but dominant pedigrees with variable expressivity have been reported. Father-to-son transmission precludes sex-linkage.

Treatment  Treatment is symptomatic. Plastic surgery of the face, extraction of teeth, and orthopaedic corrective procedures for hand and foot

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