- Gorlin's syndrome
- Gorlin-Holt syndrome
A congenital syndrome of tooth, bone, and connective tissue abnormalities of unknown etiology. Main characteristics are facial asymmetry, pronounced supraorbital ridge, wide nasal bridge, mandibular hypoplasia with a small pointed chin. Orodental abnormalities include malocclusion, missing permanent teeth, retained deciduous teeth, and bifid uvula. Associated defects include primary pulmonary hypertension, bradycardia, skeletal abnormalities, wasting of muscles of the arms and legs, restricted joint mobility, thin fingers, clinodactyly, and conductive deafness. The encephalogram (EEG) shows abnormalities. Intubation for an anaesthetic in an infant can be difficult. Present from birth.
The disease picture was delimitated in 1969 by Robert J. Gorlin and Michael M. Cohen, Jr.
- R. J. Gorlin, M. M. Cohen, Jr:
Frontometaphyseal dysplasia: A new syndrome.
American Journal of Diseases of Children, Chicago, 1969, 118: 487-494.
- J. F. Holt, et al:
Radiologic Clinics of North America, Philadelphia, 1972, 10: 225-243.
- R. J. Gorlin, R. B. Winter:
Frontometaphyseal dysplasia - evidence for X-linked inheritance.
American Journal of Medical Genetics, New York, 1980, 5: 81-84.