[PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review].

PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of alpha-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the lDUA gene.

Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging.

A 10-year-old boy with manifestations of Petty-Laxova-Wiedemann progeroid syndrome (PLWPS), a rare neonatal progeroid condition, is described and compared with those previously reported. Clinical manifestation include: severe pre- and postnatal growth retardation, "progeroid" face, large open fontanelle in infancy, umbilical hernia at birth, pseudomacrocephaly, wide calvaria, sparse scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails, undescended testes, and normal cognitive and motor development. This appears to be one of only a handful of cases of PLWPS reported in an older child or adult.

[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated from families and twin studies. Despite recent advances in identifying some susceptibility candidate genes, its underlying neurological mechanism is uncertain.

[Molecular analysis of the GABRB3 gene in autistic patients: an exploratory study].

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to Autism has been demonstrated in families and twin studies. There is evidence (linkage and genetic association, biochemical, neuropathological, functional and cytogenetic) that the gamma-amino-butyric acid receptor beta 3 subunit gene (GABRB3) at 15q11-q13 is a susceptibility candidate gene for Autism.

Medical genetics in Zulia, a State of Venezuela.

Zulia is a state located in the northwest of Venezuela. Congenital malformations, deformities and chromosomal anomalies are the second cause of infant and neonatal mortality. There are seven public and private groups providing genetic services, the most important of which, the Medical Genetic Unit at the Zulia University was created in 1973.

[Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families].

The Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X linked recessive lethal disease. The female carrier will transmit the disease gene to half of her sons and half of her daughters; half of the daughters will be carriers, while half will be normal. Half of the sons will be normal and, on average, half will have the disease.

Del(1)(q23) in a patient with Hutchinson-Gilford progeria.

A 9-year-old patient with the classical clinical picture of Hutchinson-Gilford progeria (HGP) is described. The karyotype shows a 46,XY,del(1)(q23) constitution. Our findings suggest that the interval 1q23 may play a roll in the etiology of HGP.