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Biomedical subjects

R E Stewart

Publications and source records attributed to R E Stewart.

At least 91 records · Page 5Linked to original sources
PubMed1979

The speech-language pathologist's role in understanding the genetics of Van der Woude syndrome.

A family report of three generations of Van der Woude syndrome (cleft lip or palate and lip pits) is presented to show that the speech-language pathologist may play an important role in identifying patients with this defect. Understanding the genetic basis of this syndrome and documentation of family history through pedigree analysis can be instrumental in identifying other family members potentially affected with speech disorders. Because the diagnosis of Van der Woude syndrome was made in one member of the family in the pedigree, three other family members who had never received previous diagnosis or treatment of their speech disorders were identified. Other family members were referred for genetic counseling. The concepts of autosomal dominant transmission, variable expression, incomplete penetrance, and the pedigree technique for recording family history are also presented.

Child, Preschool↗
PubMed1979

A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).

Cleft Lip↗
PubMed1978

Dens evaginatus (tuberculated cusps): genetic and treatment considerations.

This report documents the occurrence of a rare dental anomaly, dens evaginatus, in several members of a family of Guatemalan Indian descent. Previous reports on this anomaly reveal that the majority of cases have occurred in persons of Mongoloid extraction. These same reports have suggested a genetic component in the etiology of the anomaly, with most cases, however, occurring randomly. This is the first report in which the trait has been reported in successive generations. The precise mechanism of genetic transmission is still not entirely clear, although autosomal dominant inheritance is probable.

Bicuspid↗
PubMed1977

The pathogenesis of premature craniosynostosis in acrocephalosyndactyly (Apert's syndrome). A reconsideration.

A detailed examination of a stillborn fetus with Apert's syndrome showed several unexpected findings, which prompted a reevaluation of the heretofore generally accepted hypotheses regarding the cause of the dysmorphic craniofacial features in this syndrome. (1) The characteristic clinical features of Apert's syndrome were present at 24 to 26 weeks of gestation, and presumably much earlier. (2) However, there was no evidence, clinical or histological, of premature fusion of any of the cranial sutures or basilar synchondroses in this fetus. From our observations, and from a critical review of the literature, we conclude that the characteristic craniofacial malformations of Apert's syndrome are not caused by premature fusion of the cranial sutures, as has been commonly postulated. Rather, a malformation of the skull base is the most likely primary morphological event, and it leads to the characteristic dysmorphic facies, then secondarily to premature craniosynostosis. We believe the nature of the malformation is related to an abnormality in the bones which comprise the cranial base base (e.g. the sphenoid, ethmoid, and occipital bones) and to abnormal spatial relationships between the cribriform plate and the crista galli, resulting in a positional disarrangement of the points of basal attachment of the dura matter. The latter, then, precludes the normal response of the neurocranium to the forces produced by the growing brain. The synostosis is viewed as a symptom, rather than as a cause, of the dysmorphic craniofacial features typical of Apert's syndrome.

Acrocephalosyndactylia↗
PubMed1977

Mandibular hypoplasia secondary to perinatal trauma: report of case.

A case of unilateral mandibular hypoplasia is presented. Considerations regarding a differential diagnosis of hemifacial microsomia or traumatically induced ankylosis of the temporomandibular joint are discussed. Although the described malformations might suggest a diagnosis of hemifacial microsomia, the history and clinical findings tend to support the conclusion that the asymmetry was caused by damage to the temporomandibular joint at an early age.

Birth Injuries↗
PubMed1977

A survey of human genetics in the dental school curriculum.

A survey of American dental schools was conducted to determine the extent to which genetics is currently taught. Results indicate that there is a stronger emphasis at the postdoctoral level than at the predoctoral level and that the approach to teaching genetics tends to multidisciplinary. Some dental schools have already given organizational status to genetics and have instituted clinical activities in orofacial or craniofacial genetics. Considerable interest was shown in audiovisual materials and autotutorial programs in genetics. A greater emphasis on the teaching of genetics at the predoctoral, postdoctoral, and continuing education level is recommended. More trained orofacial geneticists are needed to support didactic and clinical activities within the dental schools.

Curriculum↗
PubMed1977

Genetics in the postdoctoral dental curriculum.

Over the past decade, genetics has played an increasingly important role in both predoctoral and postdoctoral dental programs. In an effort to define the scope of genetics education at the postdoctoral level, this paper outlines desired learning objectives and presents a curriculum model which has proven effective in meeting these objectives.

Curriculum↗
PubMed1976

Lead poisoning among migrant children in New York State.

Potentially hazardous painted surfaces were found in 40% of 166 dwelling units surveyed in 97 upstate New York migrant labor camps, a figure substantially lower than comparable surveys in upstate New York high risk urban areas. Blood samples obtained from 79 migrant children in 1972 revealed only one child with blood lead level above 40 mug per 100 ml as compared to a 21.6% yield from 5,733 high risk urban area children. A second screening program in 1974 yielded only three children of 190 tested with proven blood lead levels above 40 mug per 100 ml, although seven additional children with possible elevations were lost to follow-up.

Child↗
PubMed1975

Combined limb deficiencies and cranial nerve dysfunction: report of six cases.

Six cases have been presented with combined limb deficiencies and cranial nerve dysfunctions. The major features are congenital disarticulation and congenital amputation associated with various orofacial deficits. Anatomic variations in limb and facial anomalies in these cases, as well as in other cases previously reported; seem to indicate that they are part of a single dysmorphic syndrome rather than a group of distinct clinical syndromes as reported in the past.

Abnormalities, Multiple↗