Biomedical subjects
R Fragoso
Publications and source records attributed to R Fragoso.
Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).
A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.
On the deletion 4p16 Wolf-Hirschhorn syndrome.
Two girls (aged 46 and 5 months) and one boy aged 5 months) were studied and found to have the Wolf-Hirschhorn syndrome. Chromosomal complement in all three cases implicated the deletion of the 4p16 band ; in two of them an extra segment of autosomal material was found to be translocated to 4p. Parents' karyotypes were normal. It is concluded that the expression of the 4p16 monosomy is stronger than that of some simultaneous partial trisomies.
A "new" autosomal dominant genodermatosis characterized by hyperpigmented spots and plamoplantar hyperkeratosis.
A previously undescribed genodermatosis consisting of tiny hyperpigmented spots aggregated in irregular maculae and mainly localized in the regions exposed to light is reported. Hyperkeratotic papules in the palms and soles were also present. Autosomal dominant inheritance is concluded.
Dominant inheritance of holoprosencephaly.
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Autosomal recessive microcephaly associated with chorioretinopathy.
Two sisters and their brother affected with microcephaly, microphthalmia, chorioretinal degeneration, and optic atrophy were studied. Besides the clinical features derived from the main abnormalities, nanosomy and cutis marmorata were found in the three patients. Both parents and three other sibs were normal. Possible intrauterine non-genetic etiologic factors (X-rays, toxoplasmosis, cytomegalovirus) which can lead to phenocopies were investigated with negative results. Based on these and previous observations, it seems clear that a distinct form of autosomal recessive microcephaly associated with chorioretinal degeneration can be separated from the heterogenous group of entities which presents microcephaly.
[Recessive autosomal inheritance in Marfan syndrome].
Three brothers 9, 12, and 14 years of age were studied. The three of them fulfilled the diagnostic criteria of Marfan Syndrome that was made based on physical and ophthalmologic examination, these criteria included musculoskeletal abnormalities, subluxation of lens, myopia and aortic aneurysm. The three siblings died due to complications of the aortic aneurysm, which had an early onset as well as the other clinical manifestations of the disease. They were 2 brothers and one sister. There was neither mental or psychomotor retardation, nor metabolic disease in any of the patients. Family history did not show any clinical manifestation of the disease in parents or grandparents. We propose that the hereditary pattern is recessive autosomic instead of dominant autosomic given the features of these cases and their history.
[Pycnodysostosis. Five cases in three mexican families (author's transl)].
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