PubMed Health⌕ Search

Biomedical subjects

J Bodurtha

Publications and source records attributed to J Bodurtha.

At least 19 recordsLinked to original sources
PubMed1992

Progressive bilateral nasal alar collapse: a dominantly inherited trait.

We describe a 47-year-old woman with progressive bilateral collapse of the alae nasi first noted at age 16 years. Her dizygotic twin daughters have similar nasal collapse beginning at age 20 years. This condition appears to be inherited as a dominant trait. Although plastic surgical correction has been successful for a phenotypically similar condition due to trauma, surgical correction must be considered cautiously in individuals with an atraumative, possibly inherited, progressive form of the disorder.

Adult↗
PubMed1992

Partial trisomy 19p: case report and natural history.

Partial trisomy 19p was noted in an infant delivered at 39 weeks gestation with intrauterine growth retardation (IUGR), bilateral club feet, renal abnormalities, hearing deficit, and multiple dysmorphic features. Chromosomes obtained following amniocentesis at 32 weeks gestation revealed that the fetus was partially trisomic for 19p and partially monosomic for a portion of the terminal band of 3q, having inherited a derivative chromosome 3 from her father [46,XX,-3,+der(3)t(3;19)(q29;p13.2)pat]. The father was found to be the carrier of a balanced translocation between chromosomes 3 and 19 [46,XY,t(3;19)(q29;p13.2)]. The only other case of partial trisomy 19p previously reported was an infant with partial trisomy 19p and partial monosomy 13q who died at 59 days of age. This report by Byrne et al. [(Am J Hum Genet 1980: 32:64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anomalies.

Adult↗
PubMed1991

Monozygotic twins discordant for Ullrich-Turner syndrome.

We describe 9-year-old twin girls who were thought to be monozygotic but who differed greatly in physical appearance and growth pattern. One twin had Ullrich-Turner syndrome (UTS), 45,X/46,XX mosaicism in peripheral blood, and only 45,X cells in skin fibroblasts. The phenotypically normal twin also had 45,X/46,XX mosaicism in blood but only 46,XX cells in cultured fibroblasts. Analysis of DNA marker patterns in blood lymphocytes and in skin fibroblasts confirmed monozygosity with a probability of 99.97%. This case is compared with other reported cases of discordance for UTS in twins. It is concluded that essentially all of the differences between the two twins can be explained by loss of an X chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event. The presence of mosaicism in the peripheral blood of both twins is presumably due to anastomoses between the placentae resulting in a mixture of the two cell populations in the hematopoietic tissue.

Child↗
PubMed1991

Innovations in human genetics education. Medical student elective in clinical genetics.

The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 10 students choosing an elective in clinical genetics have undertaken the project. Their feedback suggests that the requirements of decision making, library research, discussion with consultants, and medical writing in a limited time period are beneficial additions to the standard elective.

Curriculum↗
PubMed1990

Evidence for a major gene in familial anencephaly.

A 21-year-old white woman sought counseling after the birth of two consecutive anencephalic male fetuses with complete rachischisis and discordant renal dysplasia. The presence of parental consanguinity prompted reconsideration of recessive inheritance. The segregation ratio from 23 additional consanguineous cases was compared with that observed in 294 presumably nonconsanguineous families previously reported. Using classical segregation analysis, the segregation ratios in the non-sporadic cases were consistent with a major autosomal recessive locus in both populations.

Abortion, Spontaneous↗
PubMed1990

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.

Bone and Bones↗
PubMed1990

Prenatal detection of non-cardiac rhabdomyosarcoma.

The most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non-cardiac rhabdomyosarcoma detected prenatally.

Adult↗
PubMed1989

Femoral duplication: a case report.

Femoral duplication is a rare anomaly that has been described as an isolated entity and in association with other congenital defects. Since the description by Erlich in 1885, 24 additional cases have been reported. The present report concerns a 34-week black female infant with apparent bilateral femoral duplication associated with a meningocele and abdominal, genitourinary, vertebral, and lower-limb anomalies. The cause is unknown. Femoral duplication is a developmental field defect, hence causally heterogeneous.

Abnormalities, Multiple↗
PubMed1989

Nail size in normal infants. Establishing standards for healthy term infants.

The nails of 48 healthy infants of 39 to 41 weeks' gestation were measured with dial calipers to establish both a method for measurement of nails and standards of nail size. Nail width and length were measured directly, and an estimated area was calculated. Nail area was compared between sexes and races and was not found to differ significantly except between races for the first fingernail. A description of the term newborn nail is presented.

Female↗
PubMed1988

Aortic stiffness: a new Doppler echocardiographic measure predictive of systolic blood pressure in children.

Aortic stiffness, the maximal frequency shift in the descending aorta divided by the Doppler acceleration time, was studied in 384 eleven year old twin children. The extent to which this measurement provided a prediction of systolic blood pressure that was independent of body size, heart rate, cardiac contractility and left ventricular mass was investigated. Aortic stiffness, after adjustment for height and weight, correlated significantly with systolic blood pressure (r = 0.22, p less than 0.01), but not with diastolic blood pressure. The short- (r = 0.82) and longer- (r = 0.68) term reproducibility of aortic stiffness was high. This measure appears to be a more powerful predictor of systolic blood pressure than is left ventricular mass. Aortic stiffness is a highly reproducible Doppler variable that may explain in part the contribution of the aortic wall elastic properties to the level of systolic blood pressure in preadolescent children at rest.

Analysis of Variance↗