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Biomedical subjects

S Pruzansky

Publications and source records attributed to S Pruzansky.

At least 37 records · Page 2Linked to original sources

Genetic services at a center for craniofacial anomalies.

Advances in medical genetics and syndrome delineation have demonstrated that many clinical entities are an expression of genetic variability. Assessment of the population at the Center for Craniofacial Anomalies of the University of Illinois Medical Center at Chicago provided a measure of the need for genetic diagnosis and counseling. While it is recognized that this experience is not necessarily representative of that prevailing at other centers, this report provides a basis for interinstitutional comparisons. Public recognition of the need and consequent demand for genetic services is increasing. The inevitable conclusion is that genetic evaluation and counseling are essential services at a center for craniofacial anomalies.

Chicago↗

Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome.

Two male patients with Johanson-Blizzard syndrome are presented. Radiocephalometry of the craniofacial complex disclosed findings previously unreported. The radiographic observations, extending from age 6 months to 5 years of age in one case, revealed a decelerating growth pattern with minimal effect on the neurocranium, but with greater effect on facial growth. Maxillary growth was more severely retarded than mandibular growth. The phenotypic characteristics related to growth retardation are age dependent in the severity of their expression.

Abnormalities, Multiple↗

Roentgencephalometric analysis of cerebral gigantism: report of four patients.

Roentgencephalometric investigation of four patients (three male, one female) with cerebral gigantism (Soto syndrome) demonstrated that both the neurocranium and facial skeleton are increased in size. The recessed flat facies characteristic of the syndrome can be attributed to the increased anterior cranial base length and frontal bossing combined with relative retroposition of the maxilla. Mandibular body length was increased but ramal height was within normal limits. The obtuse gonial angle added to the effective length of the mandible. The backward rotation of the mandible resulting from the obtuse gonial angle contributed to increased lower face height.

Cephalometry↗

Craniofacial and extracranial malformations in the Klippel-Feil syndrome.

The Klippel-Feil syndrome is of special interest to those concerned with cleft palate for the following reasons: (1) Cleft palate is a commonly associated finding: (2) malformations of the cervical vertebrae, in the absence of other stigmata of the syndrome, are a common finding in cleft palate; (3) anomalies of the upper cervical column and cranial base can impede velopharyngeal valving; (4) hearing loss is a common finding in the syndrome irrespective of the presence or absence of cleft palate; (5) cervical anomalies may complicate endotracheal intubation or head extension during pharyngeal surgery, and (5) the short neck may be the primary defect that impedes palatal fusion. This report reviews the literature on 339 patients and seven new cases in an effort to catalog the cranial and extracranial malformations associated with the syndrome and to consider the mode of genetic transmission.

Abnormalities, Multiple↗

A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis.

A number of entities can be categorized as otocraniofacial syndromes. New clinical and laboratory studies have demonstrated predictable patterns of occurrence, distinct anatomic interrelationships, separate genetic predispositions, and animal models of the varied embryogeneses. These investigations have allowed clinical separation of first and second branchial arch anomalies into syndromes of hemifacial microsomia and mandibulofacial dysostosis. The present study has established a relationship between the severity of the microtic auricle and middle ear malformation in those syndromes. Middle ear deformities, while present in both, are more severe when associated with mandibulofacial dysostosis.

Ear, External↗

Hemifacial microsomia in a patient with Klinefelter syndrome.

A patient with 47, XXY karyotype, Klinefelter Syndrome, and hemifacial microsomia (unilateral microtia and mandibular hypoplasia) is described. In view of the fact that this is the second reported patient with hemifacial microsomia and a sex chromosomal abnormality, the relationship of these two findings is discussed. Appropriate diagnostic work-up of the patient with hemifacial microsomia is reviewed.

Adolescent↗

Premaxillary agenesis, ocular hypotelorism holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram.

This four-day-old male infant with holoprosencephaly and facial dysmorphia resembled other cases in that he had several severe extracranial malformations but unusual in that such infants often have an abnormal chromosome pattern, most frequently a trisomy 13. Our patient had a normal karyogram. He differed also in having a lobar rather than an alobar type of holoprosencephaly, which is the more usual form in association with this degree of facial anomaly. A synechia between the lips on one side and segmented double spinal cord (diastematomyelia) are rare lesions in this or any other condition. This infant illustrates the principle that holoprosencephaly and facial dysmorphia together are a symptom complex that may be part of another syndrome rather than a disease in its own right.

Abnormalities, Multiple↗

The dentist on a craniofacial team.

Dentists, no less than other specialists, enrich the interdisciplinary group by the addition of their special training and experience. In the process of assimilation within the group, dentists, like all the others, become generalists. Indeed, an outsider attending staff seminars might be hard pressed to identify representatives of specific disciplines by their contributions to the dialogue. This phenomenon is a tribute to the continuing educational forum created by the team. Since each staff member holds a departmental appointment, it is inevitable that the enrichment of the individual ultimately filters into the department. Slowly, it is becoming apparent to the university leadership that in the smorgasbord of educational opportunities displayed by the university, a Center for Craniofacial Anomalies is a valuable delicacy essential to the intellectual nutrition of the institution.

Abnormalities, Multiple↗

Multiple-abutment fixed partial dentures in maxillofacial prosthetics.

Ten patients were presented to illustrate multiple-abutment fixed partial dentures used in combination with auxiliary prosthetic attachments of a fixed or removable design to solve diverse problems encountered in the rehabilitation of congenital and acquired orofacial defects. While such fixed prostheses have high initial costs, their effectiveness and long-term cost-benefits suggest that, where appropriate, they represent optimum therapy that will prove most economical over the long term.

Adolescent↗

A simplified technique for fabricating a lightweight obturator.

Polyurethane foam was used as a core material in the fabrication of a lightweight obturator. This is a time-saving method of achieving a meaningful reduction in the total weight of a prosthesis while increasing strength and facilitating repair.

Chemical Phenomena↗