1/6. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/6. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/6. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/6. macrostomia, ectropion, atrophic skin, hypertrichosis: another observation.We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/6. Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/6. A new form of mandibulofacial dysostosis with macroblepharon and macrostomia.We report on a girl aged 7 years with normal mental development but an unusual form of mandibulofacial dysostosis. The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia, retrognathism with reduced height of the mandible, and irregularly placed teeth, some to them missing.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |