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1.
Childs Nerv Syst ; 24(6): 773-6, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18369643

ABSTRACT

INTRODUCTION: Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. DISCUSSION: A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.


Subject(s)
Abnormalities, Multiple/pathology , Agenesis of Corpus Callosum , Central Nervous System Neoplasms/complications , Lipoma/complications , Nose Diseases/complications , Abnormalities, Multiple/etiology , Female , Humans , Infant , Magnetic Resonance Imaging , Syndrome
2.
Pediatr Med Chir ; 15(2): 203-5, 1993.
Article in Italian | MEDLINE | ID: mdl-8321725

ABSTRACT

Factitious fever is a heterogeneous pathology based on the simulation, obtained by the patient himself (self-induced fever) or by fraudulent state (feigned fever). Diagnosis must be suspected according to several criteria: long-lasting fever, "belle indifférence" of children and their family, normal clinical and haematological data. The authors report, in the light of the personal experience, two cases of factitious fever.


Subject(s)
Factitious Disorders/diagnosis , Fever/diagnosis , Adolescent , Factitious Disorders/psychology , Female , Fever/psychology , Humans , Male
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