Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A study of mental development of 108 patients with craniosynostosis is performed. A serious mental retardation was evident in the majority of patients with "clover leaf" and in those with acrocephalosyndactily types Appert and Chotzen, and also when they had trigonocephaly. Oxicephaly, Crouzon's disease, plagiocephaly and Carpenter's and Pfeiffer's diseases show usually a moderate and/or middle retardation. Scaphocephaly has a mental evolution with a normal I.Q., but probability for presenting perinatal hipoxia because the size and aspect of the head is high.
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PMID:[Mental evolution of 108 cases with craniosynostosis (author's transl)]. 733 45

The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.
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PMID:The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. 745 Jul 76

To examine the behavioral and emotional difficulties of 73 children and adolescents with Prader-Willi Syndrome (PWS), mental retardation-only, and dual diagnosis (i.e., mental retardation and psychiatrically disordered) on the Devereux Scales of Mental Disorders (DSMD: Naglieri, LeBuffe, & Pfeiffer, Devereux Scales of Mental Disorders (DSMD) San Antonio, TX: PsychCorp 1994). Multivariate analyses and "Italic">d-ratios were computed to assess the statistical and clinically meaningful differences between pairs of samples. The PWS sample exhibited statistically significant higher levels of psychopathology than the mentally-retarded-only sample on the Total, Externalizing, Internalizing, Attention/Delinquency, Conduct, Anxiety, and Acute Problems Scales. When compared to the dually-diagnosed sample, children with PWS Syndrome had comparable levels of psychopathology, but lower levels of depression. Results revealed that PWS represents a highly unique and complex psychological disorder with multiple areas of disturbances.
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PMID:Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome. 1694 Dec 27