1/26. 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. ( info) |
2/26. 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. ( info) |
3/26. 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. ( info) |
4/26. 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. ( info) |
5/26. 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]. ( info) |
6/26. 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. ( info) |
| 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. ( info) |
8/26. 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. ( info) |
9/26. A rare craniofacial cleft: numbers 7, 2, and 3 clefts accompanied by a single median lip pit. OBJECTIVE: A unique case of a unilateral partial Tessier no. 7 cleft accompanied by no. 2 and 3 clefts along with a single median lip pit is presented. The history, genetics, epidemiology, classifications, embryology, pathogenesis, and correction techniques are briefly reviewed. After an extensive review of the literature, we conclude that this particular constellation of anomalies has not previously been described. ( info) |
10/26. Ultrasound prenatal diagnosis of a lateral facial cleft (Tessier number 7). Lateral facial clefting may occur as an isolated phenomenon or in association with other disorders. It may originate from a failed penetration of ectomesenchyme between the developing maxillary and mandibular prominences, but disruptive factors may also occur in a proportion of cases. The frequency of this abnormality is estimated as 1 in 50 000-175 000 live births. We describe a case of isolated symmetrical lateral facial cleft (number 7 according to the Tessier classification) diagnosed prenatally on ultrasound examination at 26 weeks of gestation. ( info) |