Denouement and Discussion
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.
Most reported cases are sporadic but dominant pedigrees with variable expressivity have been reported. Father-to-son transmission precludes sex-linkage.
Treatment is symptomatic. Plastic surgery of the face, extraction of teeth, and orthopaedic corrective procedures for hand and foot
Gellis SS, Feingold M, Weintraub DM, Pashayan HM. Picture of the Month. Am J Dis Child. 1974;128(1):81-82. doi:10.1001/archpedi.1974.02110260083015