Memorias del Instituto de Investigaciones en Ciencias de la Salud
ISSN 1812-9528 versão on-line
ABSTRACT Congenital malformations occur in 3% of the newborns. Ninety percent of cases has genetic causes and 10% are due to environmental agents. Pseudothalidomide syndrome, Roberts syndrome or SC phocomelia syndrome is a genetic pathology with an autosomal recessive pattern. It is a syndrome of multiple congenital malformations and 50% of the cases exhibits a chromosomal change consisting in premature separation of the chromatids during prophase and metaphase. We report the case of a two months old baby with multiple congenital malformations who was product of the fourth pregnancy of a nonconsanguineuos couple. Two previous pregnancies ended in spontaneous abortions. There is no history of maternal patologies or environmental agents exposure during the pregnancy. The child was evaluated at the Genetics Departament of the IICS. On physical examination he presented: brachicephaly, hypertelorism, proptosis, cataracts, glaucoma, bluish sclerotics, facial hemangioma, bilateral cleft lip and palate, dysmorphic pinnae with hypoplastic lobes and micrognathia, mesomelic shortening of the four limbs, bilateral radial aplasia, both hands with three fingers, femoral aplasia and five toes on each foot. Chromosomal analysis revealed a 46,XY karyotipe with premature separation of the chromatids, considered typical of the Roberts syndrome. The above described congenital malformations and the karyotipe correspond with the Roberts syndrome. We highlight the importance of early and accurate diagnosis in patients with congenital malformations in order to provide genetic couselling specially because of the repetition risk in those which have genetic origin.
Palavras-chave: Roberts phocomelia; syndrome; pseudotalidomide.
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