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Biomedical subjects

C I Kaye

Publications and source records attributed to C I Kaye.

At least 37 records · Page 2Linked to original sources
PubMed1987

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.

Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature. The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and/or epibulbar or lipodermoids. The following data were recorded: sex (M:F 191:103); race (78% Caucasian); the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); the presence of symmetric microtia in bilateral cases (34/98); the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135/137 were ipsilateral in unilateral cases, 55/62 were ipsilateral in bilateral cases); the number of individuals with no other congenital anomaly in addition to the minimal diagnostic criteria (154/294), with only one other congenital anomaly (51/294), and with two or more other congenital anomalies (89/294); and the type of other congenital anomalies. Finally, we compared our results with other studies. Findings from our study include: mandibular asymmetry should be expected in patients with unilateral or bilateral microtia; bilateral involvement is frequent in patients with microtia; other malformations are seen frequently in all subgroups; anomalies of the cervical spine are more likely to be associated with other anomalies; and other malformations are seen in all systems and should be searched for to provide optimal management.

Adolescent↗
PubMed1986

Mendelian inheritance of isolated nonsyndromic cleft palate.

Isolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white families with 17 relatives in several generations affected with CP, including submucous CP and bifid/absent uvula. We could find no evidence of a cleft syndrome. In one family, the pattern is consistent with autosomal dominant inheritance. In 2 families, the pattern is consistent with X-linked recessive inheritance. The specific findings and their implications for family evaluation and genetic counseling are discussed.

Adolescent↗
PubMed1985

Evaluation of chromosomal damage in males exposed to agent orange and their families.

Agent Orange (AO), a phenoxyherbicide, and dioxin, an impurity found in AO, are considered clastogens, mutagens, and teratogens in plants and animals. AO has come under suspicion in humans following claims that it causes chromosome damage and birth defects in offspring of exposed individuals. No well-designed epidemiological studies are available to support this conclusion. Of ten exposed individuals studied for chromosome breaks and sister chromatid exchange frequencies, eight were ascertained because they had children with congenital defects. No consistent pattern of anomalies was observed. Five children had neurologic deficit, one child had a central nervous system anomaly, and one child was affected with glaucoma. Although all individuals studied had normal karyotypes, a statistically significant increase in chromosome breakage was observed in exposed males compared to their unexposed wives and children; sister chromatid exchange frequency was not increased.

2,4,5-Trichlorophenoxyacetic Acid↗
PubMed1985

Hemifacial microsomia and the branchio-oto-renal syndrome.

Hemifacial microsomia (HFM) and the branchio-oto-renal syndrome (BOR) are both associated with malformations of the external ears; preauricular tags, pits, or sinuses; and conductive or mixed hearing loss. Other overlapping features have been described, including cervical appendages containing cartilage in HFM, and facial paresis in BOR; however, the significance of these findings has not been discussed by previous authors. The purpose of this paper is to describe four additional propositi with overlapping features of BOR and HFM. In two cases there is a positive family history of either first and second branchial arch anomalies or malformation of the kidney. Two cases appear to be sporadic. The overlapping clinical features suggest that in some families HFM may constitute a component toward the severe end of the spectrum of the autosomal dominant BOR syndrome. The empiric recurrence risk for HFM was 3% in one study. If our interpretation of these reported cases is correct, genetic recurrence risks for individuals in these families may fall in the range of an autosomal dominant condition. Since expression of both conditions varies widely, and minor manifestations may be overlooked, the importance of careful evaluation of first- and second-degree relatives is emphasized.

Abnormalities, Multiple↗
PubMed1985

Samuel Pruzansky and the Center for Craniofacial Anomalies.

The professional career of Samuel Pruzansky was intimately related to the development and success of the world's first Center for Craniofacial Anomalies (CCFA) at the University of Illinois-Chicago. Pruzansky conceived of the idea, officiated at the birth, and presided over the growth of this Center.

Chicago↗
PubMed1985

Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities.

We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobomas, conductive hearing loss, seizures, mental retardation, and similar facial features. The results of electron microscopic studies performed on skin biopsy specimens from the patients differed significantly from those of previously reported cases of ichthyosiform dermatoses with associated neurologic and ophthalmologic abnormalities; they appear to represent a new neuroectodermal syndrome.

Abnormalities, Multiple↗
PubMed1983

Hemifacial microsomia and variants: pedigree data.

Ear malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations have been described. We have studied propositi with hemifacial microsomia (HFM) or Goldenhar syndrome (GS), also called oculoauriculovertebral "dysplasia" (OAV). In addition to ear malformations some individuals may have a small and/or malformed mandible, epibulbar, or conjunctival lipodermoids and anomalies of the cervical spine. Other malformations may also be seen. At present, the cause of these disorders is unclear. Here we present pedigree data on 97 propositi, 44 of whom had a family history of the same or similar anomaly. First-degree relatives were most often affected (35/433, 8%). Of 176 sibs tabulated, 11 (6%) were considered affected. The pattern of occurrence in many families suggested multifactorial determination, although other interpretations are possible. The occurrence of differing anomalies within a family suggests that the disorders constitute a single entity. The most frequent anomaly was a mild ear malformation (preauricular node or tag). This suggests a broad phenotypic spectrum. These data are useful for purposes of genetic counseling.

Ear, External↗
PubMed1983

Characterization of a human colonic adenocarcinoma cell line, LS123.

An epithelial cell line, LS123, was established in 1974 from the second in a series of three primary colonic tumors resected from a Caucasian female. The cell line is aneuploid, releases low concentrations of carcinoembryonic antigen (CEA), fails to grow progressively in nude mice, and forms colonies only in enriched semisolid medium developed for tumor stem cells. LS123 cells grow on confluent cell monolayers and in either low serum or serum-free medium. In the chick embryonic skin assay, LS123 cells grew as a well-differentiated abnormal colonic epithelium with little mitotic activity but with some indication of invasion. On floating collagen gels LS123 cells formed a one to three-cell-layer-thick undifferentiated epithelial sheet. The apparent low invasiveness of the cells of this line is supported by the patient's history of three primary colon tumors without systemic metastases during the past 30 yr. Therefore, although LS123 cells possess several properties associated with neoplasia, they have little invasive potential. Thus, LS123 cells may represent an important model for the study of human colon cancer.

Adenocarcinoma↗
PubMed1981

Classification, etiology, and genetic aspects of craniofacial anomalies.

The shape and function of the cranium and face at birth are the end-products of complex and poorly understood developmental processes. In this article I will attempt first to review normal craniofacial development, believing that this basic information is essential to the understanding of abnormal development. I will then review a scheme of classification of anomalies based on etiologic considerations, illustrating each etiologic factor with conditions encountered in practice. Genetic principles in the etiology of craniofacial anomalies will be emphasized. Because of space constraints, no attempt will be made to catalogue syndromes of craniofacial anomalies. The reader is referred to standard reference texts for such comprehensive listings.

Abnormalities, Drug-Induced↗
PubMed1980

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↗
PubMed1980

Longitudinal karyotype and genetic signature analysis of cultured human colon adenocarcinoma cell lines LS180 and LS174T.

Giemsa-banded chromosomes were analyzed at intervals during either 34 or 70 serial subcultivations of two cell lines, LS180 and LS174T, established from one primary human colon adenocarcinoma, and at passage 14 of autochthonous normal bowel cells, NB(LS174T). The cell lines were established and subcultured by either scraping or trypsin treatment of primary cultures; the scraped cell line was designated LS180, and the trypsin-dispersed cell line was named LS174T. Early passages of LS174T cells were composed mainly of 46,XX (38%) and 45,X (34%) karyotypes; LS180 cultures possessed cells with 46,XX (54%), 45,X (7.5%), and 47,XX+D (19.5%) chromosome modes. In both cell lines, the 45,X karyotype predominated in later subcultivations. After the fifth passage, all LS180 cells examined exhibited a translocation from the long arm of the X chromosome to the long arm of the No. 5 chromosome. Cultures from the patient's normal bowel mucosa and peripheral blood leukocytes had normal 46,XX karyotypes. Genetic signature analysis sustantiated the common genetic origin of the cell lines, and we concluded that differences observed between LS180 and LS174T were not due to contamination with other cell lines. LS180 and LS174T represent closely related cell lines differing cytogenetically in a translocation.

Adenocarcinoma↗
PubMed1979

Ganglioneuroblastoma and fetal hydantoin-alcohol syndromes.

A ganglioneuroblastoma developed in a 35-month-old boy with both the fetal hydantoin and fetal alcohol syndromes. Our case, plus two recent reports in the literature, would very likely establish the relationship between fetal hydantoin syndrome and the development of neural crest tumors. Infants exposed in utero to hydantoins should be closely observed for the development of these tumors.

Abnormalities, Drug-Induced↗