1/20. A left transverse facial cleft with a median cleft of the lower jaw.OBJECTIVE: A 13-day-old girl with a left transverse facial cleft and a median defect of the lower jaw is reported in detail. Left macrostomia was repaired using a W-plasty technique, and preauricular appendages were excised. The median defect of the mandible demonstrated by computed tomography scan on the first examination had disappeared at 1 year of age. CONCLUSION: Congenital clefts of the mandible can fuse at a later stage; thus, it is necessary to wait to treat the mandibular defect until the infant is slightly older.- - - - - - - - - - ranking = 1keywords = macrostomia (Clic here for more details about this article) |
2/20. 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 = 5keywords = macrostomia (Clic here for more details about this article) |
3/20. New surgical technique for macrostomia repair with two triangular flaps.Our new surgical procedure with two triangular flaps for macrostomia repair allows us to achieve all three therapeutic goals, including formation of symmetric lips and commissures of the mouth, reconstruction of the orbicularis muscle of mouth to restore labial function, and reconstruction of the commissure of the mouth with a natural looking contour. Furthermore, the position of the commissure of the mouth can be adjusted intraoperatively according to the extent of macrostomia. As reported here, our method provides very satisfactory clinical results and is relatively easy to perform. Thus, we believe that our method can serve as a standard for the surgical treatment of macrostomia.- - - - - - - - - - ranking = 7keywords = macrostomia (Clic here for more details about this article) |
4/20. Ablepharon-macrostomia syndrome: first report of familial occurrence.Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281-283, 2000.- - - - - - - - - - ranking = 6keywords = macrostomia (Clic here for more details about this article) |
5/20. 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 = 5keywords = macrostomia (Clic here for more details about this article) |
6/20. 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 = macrostomia (Clic here for more details about this article) |
7/20. Ablepharon-macrostomia syndrome.We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia. Many have persistent visual problems, often related to early corneal exposure. hearing loss, poor hair growth, finger contractures, and growth retardation were also chronic problems. Developmental impairment was present in two-thirds of patients but was usually mild. This report contributes to our knowledge regarding the natural history of AMS and includes the first report of an adult patient. It also adds further evidence that AMS is distinct from Barber-Say syndrome, which has similar features.- - - - - - - - - - ranking = 6keywords = macrostomia (Clic here for more details about this article) |
8/20. Ablepharon-macrostomia syndrome in a 46-year-old woman.Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition.- - - - - - - - - - ranking = 6keywords = macrostomia (Clic here for more details about this article) |
9/20. 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 = macrostomia (Clic here for more details about this article) |
10/20. Ablepharon macrostomia syndrome.The association of congenital ablepharon with the absence of eyelashes and eyebrows, a wide mouth (macrostomia), and auricular, nasal, genital, and other systemic anomalies has been termed the ablepharon macrostomia syndrome. One such case is reported which illustrates the importance of immediate postnatal ocular management to minimise severe visual loss.- - - - - - - - - - ranking = 6keywords = macrostomia (Clic here for more details about this article) |
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