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

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

Institute of Human Genetics

University of Duisburg-Essen

19 Citations (Scopus)

Abstract

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 language	English
Journal	Clinical Dysmorphology
Volume	4
Issue number	2
Pages (from-to)	136-144
Number of pages	9
ISSN	0962-8827
Publication status	Published - 1995

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Research Area: Medical Genetics

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abstract = "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.",

author = "G. Gillessen-Kaesbach and P. Meinecke and Ausems, {M. G.E.M.} and M. Nothen and B. Albrecht and Beemer, {F. A.} and K. Zerres",

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AU - Gillessen-Kaesbach, G.

AU - Meinecke, P.

AU - Ausems, M. G.E.M.

AU - Nothen, M.

AU - Albrecht, B.

AU - Beemer, F. A.

AU - Zerres, K.

PY - 1995

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N2 - 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.

AB - 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.

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M3 - Journal articles

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Desbuquois syndrome: Three further cases and review of the literature

Abstract

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UN SDGs

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