1/295. Mutchinick syndrome in a Japanese girl.We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
2/295. Uterine reduplication, unilateral ureteral and renal aplasia syndrome associated with endometrial cancer: a case report.Endometrial cancer in malformation of the urogenital system is a rare lesion. A correct diagnosis in these cases may be difficult to make due to urogenital anomalies or the unrecognised presence of a second uterine cavity. Proper diagnosis is very important for corresponding treatment.- - - - - - - - - - ranking = 0.044741120828834keywords = cavity (Clic here for more details about this article) |
3/295. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?We report a Brazilian girl, born to normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, grey matter heterotopia, and mental retardation. The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). Other differential diagnoses are discussed.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
4/295. The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings.The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. Ossicular chain anomalies were seen, especially of the incus and stapes. The oval window was very narrow to absent. Both cochleas were hypoplastic and showed modiolar deficiency. A common cavity between the vestibule and lateral semicircular canal was bilaterally present.- - - - - - - - - - ranking = 0.044741120828834keywords = cavity (Clic here for more details about this article) |
5/295. Tracheal intubation in a child with trismus pseudocamptodactyly (Hecht) syndrome.Tracheal intubation of a child with trismus pseudocamptodactyly (Hecht) syndrome is described. This disorder is characterized by progressive trismus and the need for repeated surgeries. Children intubated orally on a prior occasion may require an alternative approach subsequently due to progressive inability to open the mouth. An antegrade fiberoptic-guided nasotracheal technique initially was chosen due to extremely limited mouth opening. After this approach was unsuccessful, a retrograde guidewire-assisted fiberoptic intubation was performed. The manifestations of Hecht syndrome, as well as both techniques for tracheal intubation employed, are reviewed.- - - - - - - - - - ranking = 2keywords = mouth (Clic here for more details about this article) |
6/295. Anaesthetic management of two paediatric patients with Hecht-Beals syndrome.We undertook the anaesthetic management of two children with Hecht-Beals syndrome for orthopaedic surgery under general anaesthesia. Both patients had arachnodactyly, kyphoscoliosis, and multiple congenital joint contractures, but limited mandible excursion was not obvious preoperatively in either, although mental retardation made it difficult for them to cooperate with mouth examination. They had no apparent difficulties with their mouths in daily activities. The anaesthesia records of one patient showed that intubation had been difficult in an earlier procedure. The other patient also had a history of difficult intubation, with slight tearing of the corners of her mouth during an intubation procedure. During slow induction of general anaesthesia with sevoflurane, face mask ventilation was easily performed. We attempted to visualize the larynx under anaesthesia with muscle relaxation, but we were unsuccessful because of the limited mouth opening. After several trials, blind oral intubations were fortunately successful in both patients. There were no postoperative problems with the airway.- - - - - - - - - - ranking = 4keywords = mouth (Clic here for more details about this article) |
7/295. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.We report on a boy with congenital pure red blood cell aplasia [diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
8/295. Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor xiii-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness) copyright 1999 Wiley-Liss, Inc.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
9/295. Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae.Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies. Affected infants usually die perinatally. The authors present an 8-month-old female infant with manifestations of this syndrome and some additional traits including fusion of the lips, intraoral filiform bands, alopecia totalis, and posterior fusion failure of the vertebrae. The fused lips were opened by incising the fibrotic bands closing her mouth. Details of this patient and a brief review of the literature is presented.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
10/295. CT study of closure of the hemipharynx with head rotation in a case of lateral medullary syndrome.In a patient with unilateral pharyngeal paralysis, rotation of the head to the paralyzed side can effectively close the hemipharynx on that side. However, the exact level or place of closure is unknown. Serial computed tomography of the pharynx in a patient with lateral medullary syndrome showed that hemipharyngeal closing occurred at the level of the hyoid bone, or the hypopharyngeal cavity above the pyriform sinus, and that the entire space of the bilateral pyriform sinuses remained open despite the head rotation.- - - - - - - - - - ranking = 0.044741120828834keywords = cavity (Clic here for more details about this article) |
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