1/4. The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies.OBJECTIVES: Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonance imaging, in order to improve parents' understanding of fetal face anomalies, thereby facilitating parent counselling. methods: Two cases of fetal facial anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism. RESULTS: The images generated by three-dimensional ultrasound enabled the parents to visualize their child immediately and helped them to adjust to the diagnosis of facial defects and its clinical consequences. CONCLUSIONS: An approach based on combined use of different imaging techniques was found useful in both cases.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/4. Opitz trigonocephaly syndrome.We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/4. Partial deletion of distal 17q.A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/4. New syndrome in three affected siblings.A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. prenatal diagnosis via ultrasonography wa successful in two fetuses at risk.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |