1.
Endocrinologie
; 23(2): 121-4, 1985.
Artículo
en Inglés
| MEDLINE
| ID: mdl-4035270
RESUMEN
A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.
Asunto(s)
Anomalías Múltiples/patología , Discapacidad Intelectual/patología , Cromosoma X , Preescolar , Femenino , Humanos , Cariotipificación , Fenotipo , Aberraciones Cromosómicas Sexuales/patología , Síndrome
2.
Endocrinologie
; 23(1): 67-72, 1985.
Artículo
en Inglés
| MEDLINE
| ID: mdl-3992159
RESUMEN
A little girl with the Wolf-Hirschhorn syndrome showing a characteristic essential insomnia was examined clinically, genetically and hormonally. The values of arginin-vasotocin (AVT) implied in producing paradoxical sleep were normal. The relationship between AVT and insomnia is discussed.