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

^*Korrespondierende/r Autor/-in für diese Arbeit

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.

Originalsprache	Englisch
Zeitschrift	Clinical Dysmorphology
Jahrgang	4
Ausgabenummer	2
Seiten (von - bis)	136-144
Seitenumfang	9
ISSN	0962-8827
Publikationsstatus	Veröffentlicht - 1995

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

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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

C2 - 7606320

AN - SCOPUS:0028940215

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Desbuquois syndrome: Three further cases and review of the literature

Abstract

Strategische Forschungsbereiche und Zentren

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