Risperidone as add-on therapy in behavioural disturbances in mental retardation: a double-blind placebo-controlled cross-over study.

A double-blind placebo-controlled cross-over trial was carried out to evaluate the efficacy and safety of the combined serotonin-dopamine antagonist risperidone in mentally retarded patients with persistent behavioural disturbances. After an observation period of 1 week, risperidone 4-12 mg or placebo was administered during 3 weeks as add-on treatment to the existing medication, followed by a 1-week single-blind placebo wash-out, and another 3 weeks of double-blind treatment with the cross-over medication. Thirty-seven patients participated in the trials; 30 completed the study.

Corpus callosum agenesis, spastic quadriparesis and irregular lining of the lateral ventricles on CT-scan. A distinct X-linked mental retardation syndrome?

This report gives a description of 4 male patients, two of whom are sibs, two of whom are uncle and cousin. They appear to have psychomotor retardation, spastic quadriparesis and on CT (partial) agencies of the corpus callosum, and irregular lining of the lateral ventricles, without craniofacial abnormalities or seizures. Although the mode of inheritance of agenesis of the corpus callosum is still difficult to establish, in these 4 male patients an X-linked recessive inheritance is the most likely mode.

An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.

In this report we describe an apparently new MCA-MR syndrome with Dandy-Walker malformation in three severely mentally retarded siblings born to normal, non-consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger-nails.

[Chromosome X-linked mental retardation and marfanoid syndrome].

In the present paper we report two pairs of slightly to moderately mentally retarded brothers with Marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate and hypernasal voice, as previously reported by Lujan et al. (1984) in 4 mentally retarded males of a large kindred.

X-linked mental retardation with marfanoid habitus.

Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with marfanoid habitus.

Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect.

This paper illustrates a syndrome of distal limb deficiency and oral defects in two sibs, a moderately mentally retarded man and his mildly retarded sister. Both have microretrognathia, microstomia, normal tongue, and symmetric severe limb deficiencies. This seems to be a previously undescribed syndrome.

Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation.

In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p.

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.

In this paper we describe two new patients with distal 11q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 11q monosomy syndrome as being at 11q24.1.

Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.

The association of postaxial polydactyly type A and congenital scalp defect in a 15-year-old severely mentally retarded male confirms the previously reported suggestion that the combination of both anomalies represents a new distinct entity with autosomal dominant inheritance and variable expression.