Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The recognizable patterns of human malformations have recently received much attention, particularly because of the decline of other diseases. Patients with a congenital malformation syndrome come to the Child Neuropsychiatrist for various reasons, such as: mental retardation of variable degree, learning disabilities, speech delay or absence of speech, behaviour disorders, various neurological impairment. Parents, however, seem to be mainly concerned about the prognosis of cognitive and psychological aspects. We have studied 83 patients with a specific pattern of malformations (35 affected by the Sotos syndrome; 25 by the Williams syndrome; 9 by the Cohen syndrome; 8 by the Cornelia De Lange syndrome; 6 by the Rubinstein-Taybi syndrome) and have particularly investigated their cognitive and psychological profiles. 13/83 showed a normal cognitive level (9 Sotos syndrome; 4 Williams syndrome), while 70/83 showed a cognitive deficit ranging from mild-moderate (56 cases) to moderate-severe (14 cases). Linguistic deficits are prominent in the Sotos, Cornelia De Lange, and Rubinstein-Taybi patients, while practo-gnosic deficits are frequent in the Williams and particularly in the Cohen syndrome patients. The personality structure is characterized by immaturity and anxiety in all but the Williams syndrome patients, where some peculiar neurotic traits may be observed. All patients showed good communicative abilities.
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PMID:[Cognitive and psychological profiles in dysmorphic syndromes]. 841 90

Sotos syndrome is a well-known anomaly syndrome characterized by overgrowth, characteristic facial gestalt, and developmental delay, and haploinsufficiency of the NSD1 gene has been revealed as one of the major genetic causes. However, there have been only a few reports on neuroradiologic findings by computed tomography (CT) or magnetic resonance imaging (MRI), and functional examination of the brain has not been reported. We examined three cases with typical Sotos syndrome, which also were confirmed by genetic analysis with a specific probe for the NSD1 gene. The results of MRI showed the characteristic features that have been reported previously. The findings obtained by using single-photon emission computed tomography and magnetic resonance spectroscopy suggested an association between mental delay and behavioral tendency in Sotos syndrome and immaturity in frontal brain function.
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PMID:Neuroradiologic findings in Sotos syndrome. 1697 Aug 56