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Biomedical subjects

K L Jones

Publications and source records attributed to K L Jones.

At least 253 records · Page 14Linked to original sources
PubMed1982

Brief clinical report: Graves disease in a patient with the del(18p) syndrome.

We report the first known patient with a del(18p) and Graves disease. This deletion has previously been reported to be associated with autoimmune thyroid disease and, perhaps, with inborn errors of thyroxin biosynthesis. We present the clinical and histological information on this patient and review the literature in an attempt to clarify the relationship between abnormalities of chromosome 18 and thyroid disease.

Adolescent↗
PubMed1982

The Antley-Bixler syndrome.

Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.

Abnormalities, Multiple↗
PubMed1982

Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia.

Twelve human fetuses with radial aplasia were dissected to evaluate the vasculature of the arm. Three types of vascular patterns were found. In type I there was a single midline superficial vessel with no radial or ulnar artery. This pattern occurred in four perfused twins (acardia) with twins reversed arterial perfusion sequence, one fetus with clinical trisomy 18, and one with an unknown disorder with multiple field defects. In type II there was absence of the radial artery with or without persistence of the embryonic median artery; the other vessels were normal. This pattern was seen in three fetuses with unknown disorders associated with multiple malformations. In type III the radial artery was present but had an abnormal course. This pattern was found in three fetuses with thrombocytopenia-absent radius syndrome. From these dissections and the results of animal experiments on the embryology of the vasculature, the following conclusions can be drawn. Vasculogenesis precedes differentiation of mesenchyme into muscle and bone. The embryonic capillary net determines the adult vascular anatomy of the limb. Failure to form, malformations, or disruption of the capillary net results in anomalies of the adult vasculature and may lead to musculoskeletal defects. Failure to chondrogenesis does not disturb the capillary net, and normal arteries will develop. Absence of the radial artery found in association with radial aplasia implies that there was abnormal vasculogenesis or disruption of developing vessels, or both. Either can lead to this congenital musculoskeletal defect.

Abnormalities, Multiple↗
PubMed1982

Vascular pathogenesis of transverse limb reduction defects.

Evaluation of four patients with unilateral transverse limb reduction defects indicates that some instances of this structural defect may be the result of an in utero vascular accident. Three of the four patients had microscopic evidence of fetal vascular occlusive disease on multiple sections of the placenta, suggesting that occlusion of the brachial artery was secondary to embolization from the placental vascular thrombi. The fourth, a 116 mm crown-rump long fetus, had a massive thrombus occluding the brachial artery, which was felt secondary to hypovolemia and hypoperfusion associated with fetal blood loss during placental abruption. Recognition of the disruptive vascular pathogenesis of some cases of unilateral transverse limb reduction defects explains their negligible recurrence risk. In such cases attention should be focused on careful gross and, microscopic evaluation of the placenta.

Arm↗
PubMed1982

Possible mesodermal origin for axial dysraphic disorders.

We report four patients who provide clinical evidence supporting the hypothesis that axial dysraphic states may result from a primary disturbance in the chordoaxial mesoderm. One infant had complete craniorachischisis, an omphalocele, and ambiguous genitalia. A second infant had anencephaly and an omphalocele. The third had iniencephaly. The fourth had cervical vertebral fusion defects, an occipital menigocele, and a laterality malformation sequence. Alteration in the development of structures derived from the chordoaxial mesoderm could explain all of the structure defects observed in the four patients. This hypothesis accounts for the nature of the defects seen in association with dysraphic disorders and for the genetic relationship observed between neural tube defects and vertebral anomalies.

Abnormalities, Multiple↗
PubMed1982

Sleep-associated gonadotrophin and oestradiol patterns in girls with precocious sexual development.

Circulating concentrations of gonadotrophins and oestradiol (E2) during sleep were examined in six girls aged 5-10 years with precocious sexual development. All subjects exhibited nocturnal increments of LH and/or FSH. Gonadotrophin secretion appeared to vary from pulsatile release to random oscillations. Three subjects with LH pulses of greater than 5 miu/ml and a concomitant FSH rise had a temporal elevation of E2 during sleep. The other three subjects with pulses of either LH or FSH of less than 5 miu/ml had no nocturnal rise in E2. These data suggest that the nocturnal elevation of E2 results from pituitary release of both LH and FSH, leads to premature sexual development, and may be occasioned by inappropriate timing of hypothalamic gonadotrophin-releasing hormone (LHRH) secretion.

Child↗
PubMed1982

Three distinct types of X-linked arthrogryposis seen in 6 families.

Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).

Arthrogryposis↗
PubMed1981

The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery.

Recognition of the disruptive vascular nature of the structural defects associated with gastroschisis and an appreciation of the embryology of the umbilical region suggest that gastroschisis results from an intrauterine interruption of the omphalomesenteric artery. This mechanism accounts for the usual location of gastroschisis to the right of the umbilical cord, the integrity of the rectus muscles in affected children, and many of the clinically observed differences between gastroschisis and omphalocele. The vascular basis of this defect explains its negligible recurrence risk and should alert the clinician to the possibility of concomitant structural defects of a similar pathogenesis.

Abdominal Muscles↗
PubMed1981

Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.

A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognised as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydrocephalus. This child's course and data from published reports indicate that mucopolysaccharidosis VII, unlike the other known mucopolysaccharidoses, is clinically recognisable in the newborn period and is most likely to be associated with moderate mental deficiency which does not progress over time.

Contracture↗
PubMed1981

Vascular etiology of disruptive structural defects in monozygotic twins.

Two infants with structural defects previously undescribed in the survivor of a monozygotic twin pair are reported. One infant had hydranencephaly and a spinal cord transection, with an associated dead monozygotic co-twin of 24 weeks gestation; the other child had complete atresia of the colon and a horseshoe kidney, with a deceased co-twin of approximately six weeks gestation. These defects are presumed to be the result of in utero disruption of previously normally formed structures. They occur secondary to vascular exchange from a dead to a living monozygotic twin through placental vascular anastomoses. As illustrated by the two children described, the nature of the vascular defects seen in the survivor of a monozygotic twin pair depends on the time during gestation at which the co-twin dies. Recognition of the disruptive vascular etiology of the structural defects outlined in this report will allow for appropriate counseling with respect to the negligible recurrence risk for similar vascular accidents.

Abnormalities, Multiple↗
PubMed1980

The metacarpal index in normal children.

The metacarpal index (MCI), a radiographic measure of the slenderness of the metacarpals used in screening for the Marfan syndrome, was measured in 185 normal children ranging from two to 18 years of age. The MCI increased from lower values in early childhood to the adult range by approximately 10 to 11 years.

Adolescent↗
PubMed1980

Pedunculated fibrosarcoma. Unusual presentation of an intraabdominal fibrosarcoma arising from the greater omentum.

A 50 year old man presented with lower abdominal pain and hypotension of sudden onset. Emergency laparotomy for a suspected ruptured abdominal aortic aneurysm revealed the source of hemorrhage to be a ruptured vessel in the vascular pedicle of a large, oval tumor. This tumor had a unique appearance, lying virtually free within the abdominal cavity except for a 17 cm long umbilical cord-like vascular attachment to the greater omentum and a single fibrous adhesion to the anterior abdominal wall. Histologic examination disclosed the features of fibrosarcoma with a prominent population of myofibroblasts. Review of the literature yielded no previous examples of a similar pedunculated fibrosarcoma.

Abdominal Neoplasms↗