Abstract
We 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 Genetics 17:311-322, 1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267-274, 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 thought.
| Original language | English |
|---|---|
| Pages (from-to) | 228-232 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 38 |
| Issue number | 2-3 |
| DOIs | |
| Publication status | Published - 1991 |
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Keywords
- mental retardation
- psychiatric disturbance Lujan-Fryns syndrome
- syndromology
- X-linked
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
X-linked mental retardation with marfanoid habitus : First report of four Italian patients. / Lalatta, F.; Livini, E.; Selicorni, A.; Briscioli, V.; Vita, A.; Lugo, F.; Zollino, M.; Gurrieri, F.; Neri, G.
In: American Journal of Medical Genetics, Vol. 38, No. 2-3, 1991, p. 228-232.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - X-linked mental retardation with marfanoid habitus
T2 - First report of four Italian patients
AU - Lalatta, F.
AU - Livini, E.
AU - Selicorni, A.
AU - Briscioli, V.
AU - Vita, A.
AU - Lugo, F.
AU - Zollino, M.
AU - Gurrieri, F.
AU - Neri, G.
PY - 1991
Y1 - 1991
N2 - We 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 Genetics 17:311-322, 1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267-274, 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 thought.
AB - We 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 Genetics 17:311-322, 1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267-274, 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 thought.
KW - mental retardation
KW - psychiatric disturbance Lujan-Fryns syndrome
KW - syndromology
KW - X-linked
UR - http://www.scopus.com/inward/record.url?scp=0026085383&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026085383&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320380211
DO - 10.1002/ajmg.1320380211
M3 - Article
C2 - 2018063
AN - SCOPUS:0026085383
VL - 38
SP - 228
EP - 232
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2-3
ER -