A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation and clinodactily. She was diagnosed with osteoporosis and premature ovarian failure.

A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, as it enables more precise counselling in families in which sporadic cases with this form of prese...

Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.

Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome.

Three members of an Indian family with facio scapulohumeral dystrophy (FSHD linked to chromosome 4q35 with short EcoR1 segment of 23 Kb are reported where two male adults had schizophrenia. One family member developed isolated facial weakness with mild mental retardation. This genetically proven FSHD family is reported because of its uncommon associations.

title. A book on molecular pharmacology should be concerned primarily with drug-receptor interactions in terms of small molecule-biopolymer interactions. Yet, this text discusses neither protein structure nor nucleic acid structure and minimizes discussions of drug induced conformational changes. In other words, this volume is a good textbook of nonmolecular pharmacology. In the introduction th...

We proposed a taxonomy of advocate development in the field of developmental disabilities detived from the systematic evaluation of a Partnets in Policymaking program. Three developmental stages evolved: beginner, involved, and activist. Self-reports of advocacy actions and outcomes were collected from 3 participants with disabilities and 21 parents before and during training. A follow-up, semi...

Autism in most diagnostic systems is classified among the developmental disorders. This is appropriate in almost all cases, even though the occasional appearance of fullblown autistic syndromes in adolescents (Gillberg, 1986) (and even adults; Gillberg, 1991) highlights the need to keep an open mind about the biological basis for autistic symptoms being a priori linked with developmental proces...

A diagnosis of mental retardation carries with it certain unique treatment needs that must be understood and addressed. Unfortunately, most psychiatrists are ill-equipped to handle this situation, having received little or no formal training in this area. This article is written with the specific goal of giving psychiatrists a better understanding of the special needs of patients with mental re...