triple X females: wide phenotypic spectrum

Ten females from 9 Egyptian families with 47,XXX chromosome constitution confirmed by FISH were reported. Phenotypic analysis of the studied cases showed a wide range from apparently normal females to severe multiple congenital anomalies. One case had normal phenotype, successfully completed high school, was married and had microcephaly. Primary infertility was reported in one case, short stature and primary amenorrhea in another case. Ambiguous genitalia was the presenting feature in one case. Severe neurological manifestations and brain malformations in the form of holoprosencephaly and trigonocephaly were reported in another 2 cases. Epidermidolysis bullosa dystrophica was also an associated finding in one case. Evaluation of the phenotypic aspects of the studied cases illustrated that there was no direct etiologic relationship between these rare anomalies of 47,XXX chromosomal abnormality suggesting difficulties in genetic counseling

Comparative ultrastructural studies of gingiva and pulp in the marfan syndrome and homocystinuria

The study comprised four cases; two cases of Marfan syndrome and two cases of homocystinuria. The studied cases with Marfan syndrome clinically presented with myopia, tall stature, mild joint laxity, scoliosis, long slender limbs and arachnodactyly. One case was familial with father affected while the other case was sporadic. The two cases of homocystinuria were from two different families with affected sibs and positive parental consanguinity. The two probands of homocystinuria presented mainly with ectopia lentis, mental retardation, kyphosis and thrombo - embolic manifestations were noted. Utrastructural studies of pulp and gingiva in the Marfan syndrome cases showed active fibroblast cells, collagen fibers with accumulation of precollagen material and increased elastic fibers which showed degenerative changes. In Homocystinuria we noted accumulation of finely granular and fibrillar material between elastic and collagen fibers and in the nerve endings. Few elastic and pre - elastic fibers were seen. The precollagen material formed meshwork of fine filaments and granules. Collagen fibers were twisted, frayed, fragmented, split with increased density. The normal periodicity of collagen was lost in many areas. We can conclude that gingival and pulpal biopsies could be a reflection of molecular differences in the two disorders

Environmental factors in the etiology of congenital malformations in Egyptians

Among 500 cases with birth defects referred to the Human Genetics Department, National Research Center over a period of one year, 16 cases [3.2%], were selected for this study because they had positive history of exposure to teratogenic agents during early pregnancy. None of the studied cases had history of exposure to mutagenic or teratogenic agents prior to pregnancy.Environmental agents associated with the malformations were as follows: hormonal treatment in 9 cases, maternal diabetes in 3 cases, maternal rubella in 2 cases, maternal exposure to irradiation in one case, and lastly maternal intake of antimalarial drugs in one case. From this study we can emphasize the role played by environmental factors in the etiology of malformations in our country as it represents 3.2% of the referred cases with birth defects. We also confirm the recommendation to avoid the use of sex-steroid hormones and other teratogenic drugs during the period of organogenesis. Pregnant mothers should avoid exposure to irradiation and be immunized against viral infections particularly rubella before being pregnant. Diabetes should be adequately controlled by the use of insulin especially that no proof exists for its teratogenicity