Desbuquois syndrome: Three further cases and review of the literature

G. Gillessen-Kaesbach*, P. Meinecke, M. G.E.M. Ausems, M. Nothen, B. Albrecht, F. A. Beemer, K. Zerres

*Corresponding author for this work
19 Citations (Scopus)


We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pediatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.

Original languageEnglish
JournalClinical Dysmorphology
Issue number2
Pages (from-to)136-144
Number of pages9
Publication statusPublished - 1995

Research Areas and Centers

  • Research Area: Medical Genetics


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