1/5. The hypoglossia-hypodactylia syndrome: report of two cases.Two cases of hypoglossia-hypodactylia syndrome are reported. This syndrome is characterized by reduction in the size of tongue, micrognathia and variable limb anomalies. In these present cases, both karyotypes revealed normal. The unrelated parents and siblings are normal. Drug exposure to the mother during pregnancy was negative. Since this syndrome is rare and no previous report in taiwan. So we report these two cases and review the literature.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/5. Orofaciodigital syndrome with cerebral dysgenesis.orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a fetus presenting with some features of the OFDs but with additional global cerebral dysgenesis. ultrasonography at 19 weeks of pregnancy disclosed hypoplasia of the cerebral hemispheres with a large intrahemispheric cyst, as well as dysmorphic facial features and brachy-syndactyly IV-V. Fetal brain MRI confirmed these features and disclosed additional morphological anomalies: Agenesis of the vermis, complete agenesis of the corpus callosum, pachygyria of the left hemisphere. Pathological examination showed a disproportionate fetus with large head and short limbs. Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe micrognathia, microstomia, cleft palate, and lobulated tongue. Radiographs showed distal malformations of the four limbs. Neuropathological examination showed a severe disturbance of the architecture of both hemispheres, more severe on the right side, with four cystic structures located between the hemispheres. Olfactory stalks, mammillary bodies, and midline structures were absent. cerebellum and brainstem were hypoplastic. On the right hemisphere as on most part of the left one, microscopic findings displayed a complete disruption of the developing mantle with disturbance of the neuronal migration. The present fetus fulfilled the diagnosis of OFD syndrome: Dysmorphic features, cleft palate and lobulate tongue and polysyndactylies of the feet and hands. The cerebral involvement would make it closer to OFD type VI, but brain malformations were far more severe in the present case, with complex and generalized cortical dysgenesis, evoking a disturbance occurring at a very early stage of the embryogenesis.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
3/5. Oromandibular-limb hypogenesis syndrome: type II C, hypoglossia-hypodactylomelia.A patient with oromandibular-limb syndrome, Type II C, hypoglossia-hypodactylomelia, is documented and the pertinent literature critically reviewed. In addition to limb and tongue anomalies the patient had hypognathia, microstomia, absent mandicular permanent incisors, and enamel dysplasia. Her unrelated parents and siblings are normal. Past medical history for drug exposure to the mother during pregnancy was negative.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
4/5. prenatal diagnosis of Mohr syndrome by ultrasonography.A case of prenatal diagnosis of Mohr syndrome is presented. The ultrasound examination was indicated by the previous birth of an affected brother. The need for genetic counselling is stressed, when polydactyly is observed accidentally at ultrasound examination during pregnancy.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
5/5. Recognition in adult patients of malformations induced by folic-acid antagonists.Three patients are reported, two of whom had mothers who revealed ingestion of abortifacient drugs during pregnancy. All patients resemble one another and those described earlier with malformations that were probably either aminopterin- or methotrexate-induced. It is likely that patients I and II have abnormalities associated with the teratogenic action of these folic-acid antagonists. The etiology of Patient III's defects remains uncertain.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |