A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil.

The Associação dos Pais e Amigos dos Excepcionais (APAE) is an institution for mentally retarded patients located at Caxias do Sul in the south of Brazil. A genetic diagnostic survey of 202 individuals from this institution is presented. The patients had a male:female ratio of 1.

Fragile X syndrome. Clinical and cytogenetic studies.

Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation.

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects.

Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.

Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents.

Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins.

Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358-360] described a case with cystic renal dysplasia.

Thalidomide, a current teratogen in South America.

Thalidomide, mainly used for the treatment of leprosy, is a current teratogen in South America, and it is reasonable to assume that at present this situation is affecting many births in underdeveloped countries. Moreover, the potential re-marketing of thalidomide for the treatment of a large variety of diseases may extend the problem to the developed world. When the drug is available, the control of its intake during early pregnancy is very difficult since most pregnancies are unintended.

[Comparative study of scintigraphy, x-ray computed tomography and magnetic resonance imaging in the diagnosis of osteonecrosis of the hip and algodystrophy].

Effectiveness of modern imaging techniques were compared when used for diagnosis of the painful hip in adults, particularly the distinction between aseptic osteonecrosis and decalcifying osteodystrophy. Although a small number of patients were studied (5 cases of osteonecrosis and 5 of decalcification) the series was homogeneous (same investigator for each technique and identical equipment for each patient), and the different methods of investigation (conventional radiology, scintigraphy computed scanography CE 10,000 and 0.15 resistive NMR imaging) could be validly compared.