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Biomedical subjects

S D Shapiro

Publications and source records attributed to S D Shapiro.

At least 109 records · Page 6Linked to original sources
PubMed1986

Efficacy of and patient preference for three counseling formats.

Three methods of conveying genetics-related information to parents with children who have isolated cleft lip and palate (CL/P) were evaluated for efficacy and patient preference. The methods were slide-tape, group counseling, and individual (or parental couple) counseling formats. Sixty-one subjects were assigned at random to one of the three formats and then quizzed about their pre- and postcounseling knowledge and attitudes on CL/P. Long-term retention of information was measured by administering a third quiz 6 months after the initial counseling session. Comparisons of the mean scores for the three formats within each questionnaire revealed no significant differences among them. Based on this study, the following conclusions were drawn: Genetic counseling significantly improves one's knowledge base about CL/P; no counseling method is detectably better or worse than the others in conveying genetic information to counselees; group or audiovisual counseling is accepted by counselees as well as or better than individual counseling; the audiovisual format presents the same information as a counselor in half the time; and genetic counseling for CL/P is an underprovided service by San Antonio's CL/P treatment teams.

Adolescent↗
PubMed1985

Deletions of the long arm of chromosome 10.

Patients with a partial deletion of the long arm of chromosome 10 are rare. We report eight new cases involving various segments of 10q: one terminal deletion (10q26), four (8;10) translocations resulting in terminal deletions (10q26) and duplications (8q24.3), a de novo interstitial deletion (10q23), an interstitial deletion due to a (10;13) translocation (10q11.2----10q22.1), and a ring (10p15----10q26).

Abnormalities, Multiple↗
PubMed1985

Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.

Partial tetrasomy 9 is a very rare chromosome abnormality. Of the reported cases, most have had tetrasomy only of 9p arising from the formation of an isochromosome. In addition, mosaicism was found in five of the 12 previous cases. We report on a case of non-mosaic partial tetrasomy 9 involving all of the short arms and asymmetrical segments of the long arms.

Abnormalities, Multiple↗
PubMed1984

Brief clinical report: Curry-Hall syndrome.

Curry and Hall [1979] described a large Spanish-Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs. We describe a patient with similar manifestations, but from a different geographic and ethnic background. We propose that the disorder be called the Curry-Hall syndrome.

Abnormalities, Multiple↗
PubMed1984

A high frequency of structural chromosome abnormalities in a south central texas cytogenetics laboratory.

Abnormalities of chromosome number, such as the autosomal trisomies and sex chromosome aneuploidies, are considered to be sporadic events with low and constant recurrence risk across populations. On the other hand, abnormalities of chromosome structure can be generated by environmental agents and also transmitted in families and therefore may accumulate in certain populations. Evidence from several geographically diverse newborn infant screening studies and from clinical cytogenetics laboratories (including our own) supports the hypothesis that the frequency of structural abnormalities varies among populations, whereas the frequency of numerical abnormalities remains relatively constant among populations. The data from our laboratory, based on 1,201 patients over a 6-year period, suggest a two- to nearly fourfold higher frequency of structural defects over that of other populations (8.8% vs 4.2% and 2.5% of samples tested). Some of the problems associated with making comparisons among the published data sets are discussed, along with alternative explanations for the variability in the frequency of structural defects reported in different populations.

Aneuploidy↗
PubMed1984

Neurofibromatosis: oral and radiographic manifestations.

Oral manifestations of neurofibromatosis have been reported in only 4% to 7% of affected persons. All oral tissues, hard and soft, have been reported to be affected with tumors, but the tongue has been the most common site. We report on the oral and radiographic findings in twenty-two patients with neurofibromatosis. The prevalence of oral and radiographic findings in our sample was 72%, which is much higher than previously reported. The five most common findings are oral neurofibromas, enlarged fungiform papillae, intrabony lesions, wide inferior alveolar canals, and enlarged mandibular foramina.

Adolescent↗
PubMed1984

Studies on facial growth and arch size in cleft lip and palate.

A study of facial growth and palatal dimensions was done on 32 patients with unilateral cleft lip and palate. The study population, treated by a single surgeon, was separated into two groups: those whose palates were closed before age 4 years, and those whose palates were closed after 4 years. Maxillary growth was better in patients who had late surgery than in those who had early surgery. In addition, palatal dimensions were more nearly normal in the late group than in the early group.

Age Factors↗
PubMed1983

Tricho-dento-osseous syndrome: heterogeneity or clinical variability.

Tricho-dento-osseous (TDO) syndrome is an autosomal dominant disorder characterized by abnormalities of hair, teeth, and bone. We report on a family that seems to illustrate further clinical heterogeneity in the TDO syndrome. Although variable expression of a single TDO gene cannot be ruled out, the manifestations observed in this and other reported families appear to fall into distinct subtypes. This suggests the possibility that the clinical subtypes represent distinct genetic entities.

Abnormalities, Multiple↗
PubMed1983

Clinical heterogeneity in the tricho-dento-osseous syndrome.

The tricho-dento-osseous syndrome (TDO syndrome) involves morphologic abnormalities of hair, teeth, and skeleton. Clinical findings of the TDO syndrome are excessively curly (fuzzy) hair, enamel hypoplasia, and skeletal findings of a generalized pattern of osseous sclerosis. We report an autosomal dominant syndrome with similar hair and teeth morphology, but with a skeletal dysplasia consisting of sclerosis and thickening of the calvarium with long bones that show subtle undertubulation but no sclerosis.

Adult↗
PubMed1983

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

We describe the clinical and cytogenetic findings of two patients with deletions of the long arm of chromosome 2. One has an interstitial deletion identical to that found in a previously reported patient, although they are phenotypically dissimilar. The other patient has a terminal deletion, the first such deletion reported to date.

Chromosome Deletion↗
PubMed1983

Heterogeneity in genetic disorders that affect the orofacies.

The diagnosis of genetic disorders is complicated by multiple genetic causes for the same or similar disorders, phenotypic similarities of different disorders, and environmental disorders that resemble genetic ones. The clinical geneticist is well versed in identifying genetic heterogeneity, and the extent of the clinical heterogeneity and phenocopies for diseases with which he or she deals regularly. Nonetheless, the expertise of clinical geneticists form other specialties of medicine or dentistry may be useful in documenting heterogeneity that otherwise may be overlooked. The examples presented here illustrate that heterogeneity is as important to the dentist who practices clinical genetics as it is to the physician-clinical geneticist, and that a consultation with a properly trained dentist may be a useful part of a protocol for the genetic evaluation.

Anodontia↗
PubMed1983

A potpourri of syndromes with anomalies of dentition.

There are, of course, many disorders other than those discussed here that have distinctive orofacial findings. The conditions discussed in this paper were chosen to illustrate the importance of recognizing that an abnormality of teeth exists. In many multisystem syndromes a correct diagnosis depends on the type of dental involvement. For the dentist who is not a geneticist, or the geneticist who is not a dentist, it is important to recognize that something is "different" and to refer for a definitive diagnosis and comprehensive treatment plan. It is often not what we see and know but what we don't see and don't know that is important.

Anodontia↗
PubMed1982

The prevalence of taurodontism in a select population.

The frequency of taurodontism was studied in 1074 black children from an inner city population. Based on the index that was developed, 4.37% of the sample were determined to be affected. The frequency of taurodontism was compared to other studies. Furthermore, tooth specific frequencies were calculated and the model for determining taurodontism was evaluated.

Adolescent↗