11/397. A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome.Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
12/397. Mermaid and Potter's syndrome occurring simultaneously.We herein report a case of a female embryo who died in utero and at autopsy she was found to have bilateral renal agenesis with the extrarenal manifestations of Potter's syndrome together with mermaid syndrome which is a rare combination. From all the anomalies of the upper urinary tract bilateral renal agenesis seems to have a cardinal role in the survival of the embryo afflicted with the spectrum of associated anomalies.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
13/397. scoliosis associated with typical Mayer-Rokitansky-Kuster-Hauser syndrome.Disorders that cause congenital scoliosis include Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. We present the case of a 46-year-old karyotypical (XX) woman with mullerian agenesis (MRKH type A, typical form), a rudimentary bicornate uterus, a blind vaginal pouch, and adenocarcinoma of both ovaries with subsequent bilateral salpingo-oophorectomy. She also had scoliosis of the thoracic and lumbar spine, an association thus far seen only among patients with type B (atypical) MRKH. We describe typical and atypical forms of MRKH and emphasize how these various anomalies associated with mullerian agenesis have affected the classification of the syndrome. We also outline possible embryologic etiologies of mullerian agenesis.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
14/397. Congenital unilateral buphthalmos in walker-warburg syndrome: a clinicopathological study.BACKGROUND AND PURPOSE: walker-warburg syndrome is a congenital autosomal recessive oculocerebral disorder characterised by hydrocephalus, brain agyria, microphthalmos and retinal dysplasia with or without meningoencephalocele. We describe an unusual finding of congenital unilateral glaucoma and buphthalmos in one eye and microphthalmos in the fellow eye of two neonates with Walker-Warburg syndrome. patients: Two neonates with walker-warburg syndrome and unusual findings of buphthalmos in one eye and a microphthalmic fellow eye are presented. RESULTS: Histological examination of the buphthalmic eyes revealed the presence of mesenchymal tissue in the anterior angle covered by endothelium. No anterior chamber angle was identified in the microphthalmic fellow eye and the iris was adherent to the corneal periphery. CONCLUSIONS: Congenital buphthalmos may also appear in walker-warburg syndrome. The buphthalmos may result from later embryonal ocular developmental arrest than that of the microphthalmic eye.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
15/397. central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We report a TRAP sequence with microcephaly and a severely rudimentary brain anlage. Neuropathologic examination clearly demonstrated two types of change: (1) developmental arrest of brain at the prosencephalic stage (holoprosencephaly), and (2) hypoxic damage to the holospheric brain mantle with cystic change (hydranencephaly). With reference to previous studies in experimental animals showing that lack of oxygen during early embryogenesis can induce severe disruptions of head-brain and heart formation, it is concluded that oxygen deficiency due to TRAP may be responsible not only for the encephaloclastic changes in the acardius anceps, but for the developmental arrest of the brain cases as well. This would make it unnecessary to postulate additional primary causes such as asymmetric zygote cleavage (Schwalbe, '07) for the maldevelopment.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
16/397. Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. However, ERMS has not been reported among the malignant tumors diagnosed in DS. To our knowledge, concurrence of DS, ERMS, and MCB has not been reported previously. This is the first observation of DS in the Arab ethnic group.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
17/397. Ectopic refluxing ureter entering a seminal vesicle cyst associated with ipsilateral renal dysplasia.The unusual case of a 10-month-old infant with an ectopic refluxing ureter entering into a seminal vesical cyst associated with ipsilateral renal dysplasia is described. The embryology, differential diagnosis, and therapy are discussed.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
18/397. biliary atresia splenic malformation syndrome--is it a result of embryonically midline rotational defects? A case report.The authors present a case of biliary atresia splenic malformation (BASM) syndrome in a 34-week gestational age boy who died shortly after birth. autopsy results showed polysplenia, short pancreas, extrahepatic biliary atresia, heterotaxy of liver, tracheoesophageal and duodenal atresia, right lung hypoplasia, cardiac defects with tetralogy of fallot, axial skeletal defects, and minor genitourinary disorders. Additional histopathologic findings were congenital hepatic fibrosis and bronchopulmonary dysplasia. The authors consider that the abnormalities of this case are possibly a unique combination. Midline defects, which are the most notable features of the presented case, may be closely related to pathogenesis of BASM syndrome.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
19/397. Gonadal pathology in triploidy.There are numerous reports describing the pathology of the fetus and placenta in triploidy. Although gonadal pathology is described in many of these reports, consistent changes have not been noted nor is it clear whether genital ambiguity can be considered part of the triploid phenotype. We present a case of triploidy of probable diandric origin, in which there were dysgenetic gonads with abnormal seminiferous tubules, nodules of undifferentiated stroma, and focal absence of the tunica albuginea. As this finding was distinctly unusual in our experience of triploid gonadal pathology, we reviewed the gonadal histology in 51 fetal and infant triploids examined in our autopsy/embryopathology laboratory. The gonads were compared to age-matched normal controls to determine if there was a specific gonadal pathology associated with triploidy and if there was any correlation of this pathology with parental origin of the triploidy. Our review of the triploid gonads indicated that while minor, nonspecific changes were not uncommon, overtly dysgenetic gonads, as observed in the index case, are rare.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
20/397. A case of isotretinoin embryopathy with bilateral anotia and Taussig-Bing malformation.We report a newborn infant with multiple congenital anomalies (anotia and Taussig-Bing malformation) due to exposure to isotretinoin within the first trimester. In this paper we aim to draw to the fact that caution is needed when prescribing vitamin a-containing drugs to women of childbearing years.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
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