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Biomedical subjects

T E Kelly

Publications and source records attributed to T E Kelly.

At least 73 records · Page 4Linked to original sources
PubMed1982

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.

Adult↗
PubMed1982

An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.

We describe a family in which eight persons (three males, five females) in three generations had a syndrome of bilateral and strikingly symmetrical triphalangeal thumbs and radial hypoplasia. The affected males also had a first-degree hypospadias and all affected family members had an anterior maxillary diastema. The syndrome was inherited in an autosomal dominant fashion.

Abnormalities, Multiple↗
PubMed1982

Dyskeratosis congenita: radiologic features.

Three males with the X-linked disorder dyskeratosis congenita are described. Each suffered femoral fractures after minimal trauma with poor healing. Long bones showed coarse trabecular patterns of the metaphyses and small lucency areas in the diaphyses. Two of the males were retarded brothers who additionally showed intracranial calcifications.

Adolescent↗
PubMed1982

Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange.

A 5-year-old male with mild mental retardation showed a chromosomal rearrangement involving duplication of part of 2q (2q33.3 leads to 2wter) in 70% of metaphases from peripheral blood; the remaining 30% of cells had a rearrangement of chromosome 2 in the form of a ring, viz., r(2)(2p25.2 leads to 2q33.2). Both configurations appeared to be missing a tiny portion of 2p (p25.3 leads to pter). All metaphases examined from cultured skin fibroblasts from the child had the abnormal rod configuration of chromosome 2; none had the ring. The pattern of the 2q duplication/2p deletion in the rod is that expected if there were an inversion in a No. 2 in one of the parents. Q-, G-, and R-banding studies, however, revealed both parents to be chromosomally normal. Furthermore, the finding of an inversion would not explain the origin of the ring. The most probable explanation is that neither parent is mosaic for an inversion, but that the rod and ring configurations arose simultaneously from a de novo, prezygotic or early zygotic exchange in a No. 2, either between complementary DNA strands in G1 or by intrachromosomal exchange in S or G2. Differential selection against cells with the ring chromosome in blood and skin probably occurred during subsequent embryological development. Cytoplasmic malate dehydrogenase (MDH1) was excluded from the terminal band of 2p (i.e., 2p25.3) by deletion mapping.

Child, Preschool↗
PubMed1982

Craniofrontonasal dysplasia in a three-generation kindred.

Frontonasal dysplasia, a nonspecific defect in a developmental field complex, and craniosynostosis usually occur as isolated sporadic events. Cohen recently described a syndrome that includes both of these defects, which he called "craniofrontonasal dysplasia." We report a three-generation family in which five individuals (four females, one male) have varying degrees of frontonasal dysplasia and craniosynostosis. The mode of inheritance is unclear and possible explanations include autosomal dominant with sex-influenced expression, X-linked dominant, and metabolic interference. This family and others reported in the literature represent a subpopulation of patients with frontonasal dysplasia who are at high risk for recurrence.

Adult↗
PubMed1981

Brief clinical report: early recognition of the Coffin-Lowry syndrome.

We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. The importance of continued evaluations of these patients and examination of relatives for mild manifestations is emphasized.

Abnormalities, Multiple↗
PubMed1981

Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype.

Isolated deficiency of the lysosomal hydrolase acid neuraminidase results in multisystem storage of sialic acid-rich oligosaccharides. Wide phenotypic diversity occurs within this biochemical defect. We studied three cases of an infantile form of mucolipidosis I in which the phenotype is dominated by severe Hurloid features. These patients excreted excessive amounts of sialic acid-rich oligosaccharides in their urine, and storage of similar compounds was shown in tissues and cultured fibroblasts. Cultured fibroblasts demonstrated an isolated deficiency of acid neuraminidase; beta-galactosidase levels were normal.

Child↗
PubMed1981

A possible exception to the critical region hypothesis.

Cytogenetic studies were done on a 5-year-old female with multiple congenital anomalies and mental retardation, revealing an unbalanced X/11 translocation. Her mother and phenotypically normal sister carry the balanced form of the translocation, while her brother has a normal 46,XY karyotype. Banding studies showed the breakpoints to be Xq22 and 11q13. These are remarkable for the following reasons: (1) the X breakpoint is within the critical region of the X chromosome, yet the balanced carrier does not manifest gonadal dysgenesis; and (2) the proband was trisomic for most of the long arm of chromosome 11. Late-replication studies of cells from the two balanced carriers showed inactivation of the normal X.

Abnormalities, Multiple↗
PubMed1980

Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

An infant with multiple anomalies and developmental delay during his first year was found to have an intersitital deletion of band p14 from the proximal short arm of chromosome 3. Examination of the father's chromosomes indicates an "inserted paracentric inversion" in chromosome 3 as the probable origin of the deletion in the child.

Abnormalities, Multiple↗
PubMed1979

Partial trisomy 4q resulting from a familial 4/3 translocation.

A case of trisomy 4q resulting from a balanced paternal translocation is described. Phenotypic similarity of cases with similar break points included hypoplastic nasal alae, short philtrum and pursed lips, and prominent ears. The birth of the proband was preceded by unexplained infertility, oligospermia in the father, and increased fetal wastage. Each of these features is an appropriate indication for cytogenetic analysis. If such an analysis had been done, the unbalanced translocation state in a liveborn, handicapped child could have been anticipated.

Child, Preschool↗
PubMed1978

Trisomy 9p with an isochromosome of 9p.

An 18 1/2-year-old female is described with moderately severe mental retardation, the phenotype of the trisomy 9p syndromy, and an isochromosome for the short arm of a chromosome 9, contained in an unique karyotype, 46,XX,-9,t(7q9q),+ iso 9p.

Adolescent↗