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Anomalies of the nose, larynx and oral cavity are described in two patients with cryptophthalmos. A teratogen acting at the time of lid fold formation is probably responsible for the ocular and systemic involvement which are primarily ectodermal defects with some mesodermal involvement.
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We retrospectively reviewed the plain films and CT scans of 11 unstable atlas fractures from a series of 72 atlas fractures to better characterize these injuries and to determine if the correct diagnosis could have been made. These 11 atlas fractures were unstable because either the anterior bony ring was disrupted (six cases), the posterior longitudinal ligament was torn (one case), or both the anterior bony ring and the posterior longitudinal ligament were disrupted (four cases), allowing C1-C2 subluxation to occur. Although all the fractures were potentially unstable, only eight demonstrated subluxation on the lateral radiography. Despite the abnormal open mouth view in all cases, the plain films showed minimal abnormalities, requiring CT for definitive diagnosis. Less than half (five of 11) of the patients had other levels of spine injury or associated transverse ligament tear. Three of the 11 patients were quadriplegic, and two died as a result of their spinal cord injury. These unstable atlas fractures were similar to the classical Jefferson fracture in appearance and mechanism, except that they had fewer than four breaks in the atlas ring and were associated with severe neurologic injury and lower level spine injuries. The pattern of bilateral anterior arch fractures was associated more often with neurologic injury. Because of these differences, we chose to refer to them as Jefferson variant fractures to distinguish them from the classical Jefferson fracture and to emphasize the seriousness of this injury.
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Inherited disturbances of development of the mouth and the surrounding oral environment: lips, tongue, teeth palate as well as lesion of the central motoric kernels of certain brain nerves may cause grave speech defects. In the report a number of hereditary syndromes are listed among the symptoms of which the speech defect has dominant significance. Short description is given of dental methods by means of which the defects can be eliminated or, at least, are curable.
Here we present a second example of the syndrome first reported by Holzgreve et al. [1984] in this journal, i.e., Potter sequence with persistent buccopharyngeal membrane type II, postaxial polydactyly, cleft palate, cardiac anomalies, intestinal nonfixation, and intrauterine growth retardation. This specific complex MCA syndrome is not associated with a detectable chromosome abnormality.
We studied a new case of the G (Opitz BBB/G) syndrome in a 12-year-old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high-arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females.
We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation. There are seven previously documented cases of complete trisomy for 1q, which demonstrate that this is a lethal condition. All cases have similar phenotype including weights greater than 50th centile for gestational age, hydrocephalus, microphthalmia, abnormal ears, small mouth or jaw, and abnormal fingers. Single umbilical artery, imperforate anus, and dysplastic kidneys are also seen in more than one patient. Five of the eight translocation cases have identical chromosomal breakpoints involving 1q and Yq. This suggests the possibility of sequence similarities on these two chromosomes as has been documented with several other recurrent chromosomal rearrangements. Further, this case demonstrates the need for postnatal genetics evaluation following prenatal diagnosis. In postnatal testing, the aneuploidy could not be demonstrated in metaphase cells from cultured lymphocytes. More detailed testing prompted by abnormal amniocentesis and neonatal dysmorphology was necessary to confirm the cytogenetic diagnosis. Without the prenatal diagnosis, it is likely that the true cytogenetic aberration would have gone undetected.
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The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1--plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.
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Maple syrup urine disease is a rare inborn error of metabolism that manifests mainly by neurologic deterioration, coma, and death in early childhood. Oral manifestations described in this article were mostly gingival enlargement and rampant caries, while histopathologic findings revealed a picture compatible osteomyelitis.
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