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Biomedical subjects

C I Kaye

Publications and source records attributed to C I Kaye.

At least 19 recordsLinked to original sources
PubMed1992

Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant.

We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter-->q11.21::q11.23-->qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.

Abnormalities, Multiple↗
PubMed1992

Oculoauriculovertebral anomaly: segregation analysis.

Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.

Adult↗
PubMed1992

Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. G-banding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromeric-specific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.

Chromosomes, Human, Pair 14↗
PubMed1991

Progressive early dermatologic changes in Hutchinson-Gilford progeria syndrome.

We describe evolving dermatologic findings in a male with progeria from age 1 month to 21.5 months. At 18 months of age, irregular pigmentary changes of the abdomen, early occipital alopecia, superficial scalp veins, glyphic nasal tip, absent ear lobules, coarse hair that stands on end, crowded dentition with delayed tooth development, and dystrophic nails permitted the diagnosis of progeria. Radiographs showed evidence of resorption of the distal ends of the clavicles, attenuation of the terminal phalanges, diffuse osteopenia, and fishmouth vertebral bodies, which are typical of this syndrome. Appreciation of the evolution of early dermatologic findings may permit earlier diagnosis of this condition in infants with skin changes.

Diagnosis, Differential↗
PubMed1989

Microtia and associated anomalies: statistical analysis.

Terms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previously described or new associations. Analysis identified 15 subgroups of patients with specific patterns of anomalies. Log-linear analyses of cranial and postcranial variables demonstrated a positive association between mandibular hypoplasia and cervical spine fusion, which was, in turn, positively associated with other spine anomalies (P less than .02) and other skeletal anomalies (P less than .001). Although unilateral microtia was commonly observed with mandibular hypoplasia, mandibular hypoplasia was negatively associated with bilateral microtia. Many of the associated anomalies were of structures not derived from the 1st and 2nd branchial arch neural crest. However, most associated anomalies were of structures derived from migratory cell populations or populations undergoing differentiation prior to migration between the 19th and 24th day post-fertilization (neural crest, ectodermal placode, mesoderm, surface ectoderm). These findings suggest that many different cell populations may be disturbed in the pathogenesis of microtia in association with other anomalies. The timing of the pathogenetic event may determine the specific pattern of associated anomalies.

Abnormalities, Multiple↗
PubMed1989

Oculoauriculovertebral spectrum: an updated critique.

A comprehensive review and critical analysis of oculoauriculovertebral spectrum are provided. Topics discussed include nosologic problems, epidemiology, etiology (chromosomal, monogenic, teratogenic), and pathogenesis (hematoma formation, other vascular mechanisms, overripeness ovopathy). Clinical manifestations are thoroughly reviewed, updated, and documented for craniofacial features, central nervous system characteristics (including the wide spectrum of CNS malformations that make up the so-called "expanded Goldenhar complex"), congenital heart defects, and various other anomalies (kidney, lung, gastrointestinal tract). A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanck syndrome, DiGeorge sequence, and several associations (VATER, CHARGE, and MURCS).

Goldenhar Syndrome↗
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↗
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↗
PubMed1977

Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy.

Siblings with multiple congenital anomalies secondary to familial partial trisomy of chromosome number 13 are described. In addition to other findings, the younger child exhibited a cleft of the soft palate. The mechanism of transmission of the chromosomal abnormalities, the relationship of the physical abnormalities and the chromosome findings, and the significance of these findings in the consideration of recurrence risks in future pregnancies are discussed.

Abnormalities, Multiple↗
PubMed1976

Human colonic adenocarcinoma cells. I. Establishment and description of a new line.

A series of human colonic epithelial cell lines have been cultured from a single patient: LS-180 the original adenocarcinoma, LS-174T a trypsinized variant, and normal colonic tissue. The malignant cells, 20 to 40, mum in diameter and oval to polygonal, exhibited characteristics of normal colonic mucosal cells, namely, abundant microvilli prominent in secretory cells, and the presence of intracytoplasmic mucin vacuoles. The cultured adenocarcinoma cells, but not normal, demonstrated neoplastic properties by producing high levels of carcinoembryonic antigen (CEA) and by the ability to be propagated in hamster cheek pouches and in immunodeprived mice. The CEA production by the newly established line LS-180 released 900 times more CEA per cell into the culture medium and bore 30 times more cell-associated material than the established line, HT-29. These cell lines may permit detection of distinctive chemical, physiological, pharmacologic, and immunologic characteristics of neoplastic colonic cells.

Adenocarcinoma↗