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

Institut für Humangenetik

Universität Duisburg-Essen

23 Zitate (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.

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

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

Strategische Forschungsbereiche und Zentren

Querschnittsbereich: Medizinische Genetik

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title = "Desbuquois syndrome: Three further cases and review of the literature",

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

Y1 - 1995

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.

UR - https://www.scopus.com/pages/publications/0028940215

M3 - Journal articles

C2 - 7606320

AN - SCOPUS:0028940215

SN - 0962-8827

VL - 4

SP - 136

EP - 144

JO - Clinical Dysmorphology

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IS - 2

ER -

Desbuquois syndrome: Three further cases and review of the literature

Abstract

UN SDGs

Strategische Forschungsbereiche und Zentren

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