|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Gorlin-Cohen syndrome
Also known as:
Gorlin's syndrome
Gorlin-Holt syndrome
Associated persons:
M. Michael Cohen, Jr
Robert James Gorlin
J. F. Holt
Description:
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.
Bibliography:
- 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:
Frontometaphyseal dysplasia.
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.
|
|
|
