11/37. Management of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. A case report.BACKGROUND: uterus didelphys with obstructed hemivagina presents with a pelvic mass often inappropriately approached by laparotomy. CASE: An adolescent female was evaluated for dysmenorrhea, a pelvic mass and a double uterus. Transvaginal resection of the oblique vaginal septum was performed, with relief of symptoms and subsequent conception. CONCLUSION: This entity should be considered to prevent misdiagnosis and unnecessary abdominal surgery.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
12/37. Limb body wall complex.A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
13/37. Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome.We report on a boy with Pallister-Killian syndrome (PKS) who was conceived by assisted reproductive technology (art), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that art might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by art, a technology known to cause low and very low birth weight.- - - - - - - - - - ranking = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
14/37. Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome.A case of hypogonadotropic hypogonadism associated with the Johnson-McMillin syndrome is presented. This is a rare, autosomal dominant disorder, characterized by variable degrees of alopecia and anosmia, conductive hearing loss, and increased dental caries. Until now hypogonadotropic hypogonadism has only been observed in affected men. ovulation can be induced with gonadotropins and conception can be obtained, but because prenatal diagnosis is not as yet possible, oocyte donation should be offered as an alternative for procreation.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
15/37. hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets.We report female triplets with the clinical and biochemical manifestations of hypoparatyroidism-retardation-dysmorphism (HRD) syndrome also known as Sanjad-Sakati syndrome. They were born at 35 weeks gestation after assisted pregnancy (in vitro fertilization). The parents are first degree cousins from saudi arabia.- - - - - - - - - - ranking = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
16/37. Combined chemotherapy and teratogenicity.BACKGROUND: The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and absence of distal finger phalanges associated with maternal exposure to chemotherapeutic agents during the first trimester of pregnancy. These associations have not been previously described. CASE: The patient was born by normal delivery after 38 weeks of pregnancy. His mother became pregnant while receiving chemotherapy (cyclophosphamide, 5-fluorouracil, and adriamycin) for breast cancer, and the fetus was exposed to these drugs from conception to the 16th week of pregnancy. At birth, anomalies were observed, including a high-arched palate, microcephaly, a flat nasal bridge, bilateral syndactyly in the first and second fingers with a hand cleft between the second and third fingers and hypoplasia of the fifth fingers, and dystrophic nail of the fourth finger of the left hand. The patient's growth and development were deficient. CONCLUSIONS: The malformations associated with in utero exposure to these chemotherapeutic agents are highly variable, but growth deficiency and anomalies of the craniofacial region and limbs are the most common. The pattern of malformations in children who were congenitally exposed to chemotherapeutic agents appears to be directly related to the age at and duration of exposure, rather than to the specific drug itself. Effective contraception is essential for the safe use of a potential teratogen in nonpregnant women of reproductive age.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
17/37. Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins.The '13q-' syndrome shows widely variable manifestations. Investigation of the involvement of different tissues has never been reported in patients with 13q- syndrome previously.We describe a patient with mosaicism for del(13q) and clinical features of 13q- syndrome. The mother of the patient was professionally exposed to aniline colorants and glue components during the whole pregnancy. The patient had dysmorphic features, skeletal anomalies and brain malformations with agenesis of the corpus callosum, vermian hypoplasia and IVth ventricular system abnormalities. eye examination revealed chorioretinal coloboma and irregular dispersion of retinal pigment in the right eye. The karyotype analyses and the molecular studies performed on peripheral lymphocytes, oral swab and cells of urinary tract were normal whereas a deletion of the long arm of chromosome 13 (13q13.2) was found in skin fibroblasts and in hair cells.We hypothesized that the 13q deletion arose during the third week after conception possibly due to a teratogenic effect and that tissue of mesodermal and ectodermal origin are involved.We suggest analysing a fibroblast karyotype when a diagnosis of 13q- syndrome is suspected on clinical ground. The role of teratogens in causing this type of mosaic chromosome abnormality also warrants further investigation.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
18/37. Bosma arhinia microphthalmia syndrome.Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Other patients with this syndrome have been reported as cases of arhinia with associated defects. During embryonic development, the nasal placodes form 28 days after conception shortly after the optic vesicles makes contact with the overlying surface ectoderm at 26-27 days, and both layers invaginate to form the eyes between 34 and 44 days. mice with homozygous mutations of Pax6, manifest underdevelopment of ocular and nasal structures, and a network of developmentally regulated genes function downstream of Pax6 to form nasal, ocular, and pituitary structures. These genes represent candidate genes for this disorder, and familial recurrence of Bosma syndrome has been reported to occur. This report describes two sporadic unrelated cases of this rare syndrome and briefly reviews the findings in previously reported cases.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
19/37. prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).- - - - - - - - - - ranking = 11.363818819707keywords = fertilization (Clic here for more details about this article) |
20/37. Unilateral diplophthalmos.In a child born of a full-term pregnancy, unilateral diplophthalmos without proboscis was observed along with other craniocervical abnormalities (ipsilateral temporoparietal porencephaly, supernumerary teeth, and cervical cyst). A globe almost normal in shape and size was observed within the left orbit. The upper quadrant of this globe was attached to a smaller, pear-shaped, supernumerary eye containing a small lens, normal vitreous humor, ciliary body structures, avascular retina, choroid, and a rudimentary optic disk. When a two-peaked and enlarging intraocular mass was observed clinically, the eye was enucleated because of suspected neoplasm. The enlarging prominence had been caused by the growing second globe. Our findings indicated that a single primary optic vesicle was formed (globe I with an optic fasciculus), and some unknown damage was caused when this single primary optic vesicle induced the lens formation by contacting the ectoderm. Although the conception and early embryonal life of this child had taken place during a period of increased radiation exposure caused by the explosion of the nuclear plant at Chernobyl, U.S.S.R., in the spring of 1986, it seemed unlikely that the abnormality could have been caused by radioactive fallout in the mountains of austria.- - - - - - - - - - ranking = 1keywords = conception (Clic here for more details about this article) |
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