Biomedical subjects

P F Borns

Publications and source records attributed to P F Borns.

15 recordsLinked to original sources

PubMed1993

Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.

Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study.

Abnormalities, Multiple↗

PubMed1987

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.

A male fetus with decreased calvarial mineralization and suspected omphalocele was identified prenatally in a woman with oligohydramnios and Melnick-Needles syndrome (MNS). At autopsy, exophthalmos, prune belly sequence with urethal atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut were identified. Mandibular hypoplasia and delicate, bowed, irregular, long bones and ribs with widening and deep cupping of the metaphyses were found radiographically. In addition, we review 3 previously reported cases of males with similar, lethal malformations, all born to mothers with MNS. It is our conclusion that these anomalies characterize the male MNS phenotype. A review of all reported viable individuals with MNS identified 2 distinct entities: a mild form found only in females, compatible with normal life expectancy in most cases and inherited in an X-linked dominant male lethal or sex limited autosomal dominant pattern, and a different, more severe disorder, termed precocious osteodysplasty, found in both males and females and inherited as an autosomal recessive trait.

Adult↗

PubMed1986

Ossification center of the infant hip: sonographic and radiographic correlation.

A new sonographic technique for evaluating the ossification center of the infant's hip allowed identification of the ossific nucleus before it could be visualized radiographically. With this technique, delay in ossification associated with hip pathology can also be recognized. Proper assessment of the size of the ossific nucleus requires scanning in orthogonal planes. Acoustic shadowing causes the growing ossification center to appear curved and may make the medial acetabulum and triradiate cartilage difficult to identify. Sonographic hip evaluation usually ceases to be reliable in children over 1 year old.

Femur Head↗

PubMed1985

Real-time ultrasound in the diagnosis of congenital dislocation and dysplasia of the hip.

A technique of examining the infant hip joint with real-time ultrasound is described. Since the cartilaginous femoral head is clearly imaged by ultrasound, anatomical structures and their relationships can be accurately determined. Dislocated hips are easily detected and subluxations also can be visualized. We report our experience with 131 examinations in 104 patients, comprising 259 single hip studies. Of 83 patients who were previously untreated, there were 178 hip studies with three false-negative and four false-positive ultrasound results. No dislocations were missed. Twenty-seven patients who were already being treated were examined to assess hip location, comprising a total of 81 hip studies. In some cases the patients were examined while in an abduction device, cast, or Pavlik harness. In one case a dislocation was not detected. The method of examination using real-time ultrasound is considered to be reliable, accurate, and a useful adjunct to radiography. The advantages are that it is non-invasive, portable, and involves no exposure to radiation.

Child, Preschool↗

PubMed1984

Examination of the infant hip with real-time ultrasonography.

Examination of the infant hip with a real-time sector scanner permits accurate and reliable determination of the anatomic structures and relationships of the hip joint. A technique using two transducer orientations has been found most effective. In 100 hip examinations, the method failed to differentiate an abnormal hip in only one instance.

Child, Preschool↗

PubMed1983

Osteoglophonic dwarfism in two generations.

A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

Adult↗

PubMed1976

Pulmonary function in survivors of Wilm's tumor. Patterns of impairment.

Whole-lung irradiation in Wilms' Tumor patients has been given prophylactically and for treatment of metastasis. Thirty-three children with Wilm's tumor who have survived for 4 to 20 years from the time of diagnosis were avaiable for study. Whole-lung irradiation was given in doses from 1163 to 1370 rads (orthovoltage). Eighteen patients (Group N) received no irradiation to the lungs. The remaining 15 patients were divided according to whether pulmonary irradiation was given for metastatic disease (Group M--10 patients) or for prophylactic treatment (Group P--five patients). All but five patients in Group N received at least one course of actinomycin D. A routine set of pulmonary function tests was done to assess possible abnormalities of lung volume and the mechanics of breathing. Group N was normal. The findings in Group M suggested moderately reduced lung volumes and may have also reflected obstruction of the large airways and/or a limited expiratory effort. Group P had essentially normal lung volumes but also appeared to have obstruction of the larger airways. Abnormalities were generally not severe; only two patients, in Group M, were symptomatic. Excess irradiation, presence of metastatsis, additional lung irradiation, and pneumonitis may have contributed to morbidity.

Child↗

PubMed1975