Desbuquois' syndrome

Alternative eponyms

Related people

Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes.

Description

Also known as Desbuquois-Grenier-Michel syndrome. A familial syndrome with a wide clinical spectrum characterised by peculiar skeletal changes, overstretchable joints and facial changes. Major features include chondrodystrophy, micromelic dwarfism, vertebral and metaphyseal abnormalities, advanced carpotarsal ossification, dislocation of the patellae and hips, glaucoma, and mental deficiency. Inheritance is autosomal recessive. Some cases of parental consanguinity reported.

The patients of Desbuquois et al, aged 8 years and 20 months, showed chondrodystrophy with severe dwarfism, dislocation of the patellas and hips, glaucoma, and mental retardation

Bibliography

  • G. Desbuquois, B. Grenier, J. Michel, C. Rossignol:
    Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Archives françaises de pédiatrie, Paris, 1966, 23: 573-587.
  • G. Gillessen-Kaesbach, P. Meinecke, G. E. M Ausems, M. Nöthen, B. Albrecht, F. A. Beemer, K. Zerres:
    Desbuquois syndrome. Three further cases and review of the literature.
    Clinical Dysmorphology, 1995 4:136-44.

What is an eponym?

An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.

What is Whonamedit?

Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.

Disclaimer:

Whonamedit? 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.