1/459. Schinzel-Giedion syndrome: evidence for a neurodegenerative process.We report on a case of Schinzel-Giedion syndrome in which serial magnetic resonance (MR) brain-imaging studies demonstrated a progressive neurodegenerative process. These findings in addition to "coarse" facial appearance and skeletal abnormality suggest that a progressive metabolic defect underlies this syndrome. However, results of detailed investigations for metabolic disorder were all normal.- - - - - - - - - - ranking = 1keywords = process (Clic here for more details about this article) |
2/459. The Scheibe cochlea deformity with macrocephaly: a case for single channel implantation.An 11-year-old congenitally deaf child with bilateral primitive common cavity (Scheibe type) cochleosaccular dysplasia and benign familial macrocephaly was implanted with an extracochlear single channel device with an ear level speech processor. This paper describes the assessment, findings, dilemmas in decision making, surgical procedure and the favourable outcome after implanting. The relevant literature has been reviewed and our case is presented for the unusual combination of features.- - - - - - - - - - ranking = 0.2keywords = process (Clic here for more details about this article) |
3/459. Lethal neonatal Hutchinson-Gilford progeria syndrome.We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.- - - - - - - - - - ranking = 0.2keywords = process (Clic here for more details about this article) |
4/459. association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report.We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.- - - - - - - - - - ranking = 37.045037949773keywords = alveolar (Clic here for more details about this article) |
5/459. achondroplasia-hypochondroplasia complex in a newborn infant.We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene. Neither had had genetic counseling or molecular testing prior to the pregnancy. Antenatal ultrasound study at 29 weeks of gestation showed a large head, very short limbs, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone. The patient was born by cesarean section at 37 weeks of gestation and had rhizomelic shortness of limbs with excess skin creases, large head, and small chest, diagnostic of achondroplasia. Radiographs showed shortness of the long bones and flaring of the metaphyses. She had mild hypoplasia of lungs. Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. At 8 months, she has disproportionate shortness of the long bones and a large head with frontal bossing and a depressed nasal bridge. Her chest remains small, and she is on home oxygen at times of respiratory stress. She has a large gibbus. She is delayed in her motor development and has significant head lag. To our knowledge, there is only one previously published report of achondroplasia-hypochondroplasia complex.- - - - - - - - - - ranking = 20.23028347182keywords = ridge (Clic here for more details about this article) |
6/459. Moebius syndrome: the new finding of hypertrophy of the coronoid process.The first detailed description of congenital facial paralysis was reported by Moebius in 1888. It is characterized by either unilateral or bilateral paralysis of the facial muscles and an associated abducens palsy. The present report is of two patients with Moebius syndrome, who were also diagnosed with trismus at birth. Each patient also demonstrated bilateral hypertrophy of the coronoid process of the mandible. In effect, the zygoma obstructed the excursion of the mandible because of a "coronoid block." A three-dimensional computed tomography scan demonstrated normal temporomandibular joints but bilateral hypertrophy of the coronoid processes and micrognathia. Both patients demonstrated less than 10 mm of oral excursion. Bilateral coronoidectomies were performed through an intraoral approach. The oral excursions after surgery increased to at least 20 mm. In each of these patients, the coronoid process was enlarged relative to the zygoma, which was of normal size and configuration. The trismus was associated with blocking of the coronoid by the anterior zygoma, preventing open or full excursion of the hypoplastic mandibles. Moebius syndrome can have a variable presentation at birth. In two patients, the authors describe a new finding of hypertrophy of the coronoid process and trismus secondary to obstruction of the coronoid by the hypertrophic zygomas during oral excursions. Each patient is described, and a review of the literature is discussed.- - - - - - - - - - ranking = 1.6keywords = process (Clic here for more details about this article) |
7/459. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.- - - - - - - - - - ranking = 20.23028347182keywords = ridge (Clic here for more details about this article) |
8/459. Developmental delay in fetal aminopterin/methotrexate syndrome.Maternal exposures to aminopterin and methotrexate have been associated with a pattern of malformation which includes prenatal-onset growth deficiency, severe lack of ossification of the calvarium, hypoplastic supraorbital ridges, small, low-set ears, micrognathia, and limb abnormalities. We report on a patient whose mother received methotrexate during the first trimester of pregnancy and who, in addition to the structural anomalies typical of maternal methotrexate exposure, has significant developmental delay. This is the third patient exposed to folic acid antagonists with mental retardation, providing further evidence that developmental delay is one feature of fetal aminopterin-methotrexate syndrome. Therefore, it is recommended that formal developmental testing be performed in all patients prenatally exposed to methotrexate.- - - - - - - - - - ranking = 20.23028347182keywords = ridge (Clic here for more details about this article) |
9/459. Bilateral coronoid process hyperplasia with limitation on mouth opening: case report.Coronoid process hyperplasia with limitation of mouth opening is rare. The pathology is often ignored, but it can be easily detected using dental panoramic view of x-ray films. Definition of the coronoid process hyperplasia can be made by measuring the height of coronoid process and the ratio of coronoid/condyle height on lateral cephalometric x-ray film. Etiology of the coronoid process hyperplasia can be congenital or acquired. Differentiation of the diagnosis may be difficult. The congenital type occurs at early age with clinical manifestations. Proposed hypotheses for the formation of coronoid process hyperplasia include increased activity within the temporalis muscle from conditions such as functional stress, compression, and tension. For patients with coronoid process hyperplasia and restriction on mouth opening, conservative treatment should first be attempted. Surgical treatment is considered if conservative treatment fails. Coronoidectomy with early mobilization and aggressive physiotherapy corrects the problem. We present a patient with coronoid process hyperplasia with limitation of mouth opening who was successfully treated.- - - - - - - - - - ranking = 2.2keywords = process (Clic here for more details about this article) |
10/459. Half nose with ipsilateral eye and ear anomalies and facial asymmetry: report of a case with cephalometric analysis and orthodontic treatment.OBJECTIVE: Unilateral nostril agenesis together with ipsilateral alterations of the eye, ear, and face make up a spectrum of anomalies. The aim of this study is to report a case in a Japanese girl, 14 years, 5 months of age. Cephalometric analysis is provided, and orthodontic treatment is discussed. DESIGN: Lateral and frontal cephalograms were compared to a Japanese control group. Outcome of the orthodontic treatment was evaluated by comparing cephalograms taken before and after orthodontic treatment. RESULTS: The lateral cephalometric analysis showed a severely hypoplastic maxilla in both sagittal and vertical dimensions, coupled with a decreased posterior cranial base. The mandibular rami were asymmetric. The frontal cephalogram showed decreased cranial width and maxillary alveolar width, together with an increased interorbital distance. CONCLUSIONS: Serial lateral cephalograms during the orthodontic treatment from the age of 14 to 20 years demonstrated no significant maxillary growth and some mandibular growth, coupled with labial tipping of the maxillary central incisors.- - - - - - - - - - ranking = 7.4090075899546keywords = alveolar (Clic here for more details about this article) |
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