|
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
|
|
|
Lenz-Majewski syndrome
Also known as:
Braham-Lenz syndrome
Lenz-Majewski hyperostotic dwarfism
Associated persons:
R. L. Braham
Widukind Lenz
Frank Majewski
Description:
A very rare syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. Characterised by progeria, growth retardation, vein dilatation, large anterior fontanelle, emaciation, large ears (choanal atresia), hands and feet syndactyly, joint hyperextension, and dental enamel hypoplasia.
Only two cases reported (1990). Present from birth. The syndrome is believed to be transmitted as an autosomal dominant trait.
R. L. Braham in 1969 described it as Camurati-Engelmann syndrome. Lenz and Majewski in 1974 delimitated the disease picture as an independent entity.
Bibliography:
- R. L. Braham:
Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann syndrome).
Oral Surgery, 1969, 27: 20-26.
- W. D. Lenz, F. Majewski:
A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.
Birth Defects Original Article Series, New York, 1974, X (12): 133-136.
|
|
|
