X‐linked mental retardation with marfanoid habitus: First report of four Italian patients
作者:
F. Lalatta,
E. Livini,
A. Selicorni,
V. Briscioli,
A. Vita,
F. Lugo,
M. Zollino,
F. Gurrieri,
G. Neri,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1991)
卷期:
Volume 38,
issue 2‐3
页码: 228-232
ISSN:0148-7299
年代: 1991
DOI:10.1002/ajmg.1320380211
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: mental retardation;X‐linked;syndromology;psychiatric disturbance;Lujan‐Fryns syndrome
数据来源: WILEY
摘要:
AbstractWe report on 4 new cases of mildly retarded patients with marfanoid habitus and a characteristic constellation of minor anomalies. These patients, although sporadic, are likely to be affected by the same X‐linked type of mental retardation described by Lujan et al. (American Journal of Medical Genetics17:311–322,1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics28:267–274, 1987).The similar psychiatric history in 2 of our patients suggests that psychotic behaviour could be an additional manifestation, previously unrecognized in this condition.Late diagnosis of this relatively new syndrome in all our patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone. On the other hand, the Lujan‐Fryns syndrome appears to be more common than one would have
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