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Biomedical subjects

K L Jones

Publications and source records attributed to K L Jones.

At least 271 records · Page 15Linked to original sources
PubMed1980

The penta-X syndrome.

A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromosome replication studies using BrdU labelling in the patient's cells clearly showed that the four presumably inactive X chromosomes were late replicating but not in a strictly synchronous fashion.

Abnormalities, Multiple↗
PubMed1980

Calcitonin secretion in congenital nongoitrous cretinism.

Plasma calcitonin (CT) was measured in the basal state and/or during provocative tests of hormone secretion in 11 children with congenital non-goitrous cretinism (CNC), in 1 girl with a lingual thyroid, and in 11 normal children. Basal and stimulated CT concentrations were significantly lower in the patients with CNC than in the normal subjects. Mean basal CT (+/- SE) was 41 +/- 4 pg/ml in the normal children, 24 +/- 3 pg/ml in the children with CNC, and 20 +/- 2 pg/ml in the patient with the lingual thyroid. The mean incremental CT responses to calcium infusion were 7.0 +/- 2 pg/ml in the children with CNC, 6.0 pg/ml in the patient with the lingual thyroid, and 146 +/- 47 pg/ml in the normal children. The children with CNC also demonstrated a significant delay in the return of the total serum calcium to basal level after the calcium infusion. The mean incremental CT response after infusion of pentagastrin was 7.6 +/- 2 pg/ml in the children with CNC, 10.0 pg/ml in the child with the lingual thyroid, and 34.4 +/- 11 pg/ml in the normal children. These data indicate that CT deficiency is present in children with CNC and suggest that the deficiency is a consequence of the defective embryologic development of the thyroid gland.

Adolescent↗
PubMed1980

Determining role of the optic vesicle in orbital and periocular development and placement.

Nine patients with aberrations in development and placement of the eyes and periocular structures who also had serious defects in central nervous system development were evaluated in order to better understand normal ocular development. Included were an incompletely developed twin stillborn infant who lacked both eyes and the nose, a stillborn infant with cyclopia hypognathia, 6 spontaneous abortuses with varying degrees of holoprosencephaly, and a 17-year-old male with a serious defect in central nervous system development whose right eye was positioned laterally above the right ear. In all cases, evidence indicates that orbital and periocular structures are determined by the underlying optic vesicle rather than independently derived as has been suggested by previous studies.

Abnormalities, Severe Teratoid↗
PubMed1980

Intrauterine constraint and craniosynostosis.

Intrauterine constraint is responsible for a number of structural defects of the craniofacial and peripheral skeleton including plagiocephaly, micrognathia, congenital hip dislocation, and talipes equinovarus. This report describes five infants with serious craniofacial alterations, all attributable to intrauterine constraint. All five children had clinical and laboratory evidence strongly suggestive of craniosynostosis. In three of the five, sutural fusion was documented either at operation or at necropsy. In the other two the clinical course indicated that true synostosis was not present. In all cases the sutural involvement corresponded to the dimension in which head growth had been restricted. This determaination was based upon an assessment of the other craniofacial alterations that were present. The etiology of the intrauterine constrain was different in each case. Factors involved included breech presentation, primagravidity, uterine malformations, amniotic bands, and defects in fetal neuromuscular development, all of which are known to produce fetal deformations. As further evidence of severe constraint, fetal activity was greatly reduced during four of the five pregnancies. There was no history of craniosynostosis in other family members. We propose that in utero compression may lead to a spectrum of craniofacial defects that includes craniosynostosis when the constraint is particularly prolonged. The data suggest that mechanical forces may play a role in the etiology of some cases of craniosynostosis. The fact that head shape spontaneously remolded in one of the five cases suggests further that surgical correction may not be required in all cases in which constraint is the suspected etiology of the deformation. (Neurosurgery, 6: 39-44, 1980).

Breech Presentation↗
PubMed1980

The MIller-Dieker syndrome.

Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been evaluated, bringing to ten the number of patients reported with that disorder. We wish to emphasize that lissencephaly is etiologically non-specific and represents only one feature in this malformation syndrome. Other features, such as the craniofacial, neurologic, and growth abnormalities, are more helpful in diagnosing this autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1979

The 'breech head' and its relevance.

Eight infants had scaphocephaly with prominent occipital shelving. This abnormal head shape is identified as a postural deformation associated with breech intrauterine position, and it is noted to resolve during infancy with no apparent residual impairment in most cases. At the same time, the "breech head," as we have designated this unusual head form, may occur in the setting of a primary problem in fetal morphogenesis, and it may be itself a factor contributing to birth injury during vaginal delivery of the breech infant.

Breech Presentation↗
PubMed1979

The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

Seventy-nine patients with the amniotic band disruption complex, including 54 infants with multiple system involvement and 25 with affected limbs alone, were evaluated. No two cases of the disorder were exactly alike. Defects varied from simple digital band constrictions to major craniofacial and visceral defects; fetal death may also occur. Amniotic rupture appeared to cause injury through three basic mechanisms: (1) interruption of normal morphogenesis; (2) crowing of fetal parts; and (3) disruption of previously differentiated structure. Comparison of 35 cases in which the timing of amniotic rupture could be estimated suggests that early amniotic rupture results in multiply affected infants who are frequently aborted or stillborn, whereas later rupture results primarily in limb involvement. Our findings indicate that both the spectrum of the developmental pathology and the nature of fetal outcome are determined by the timing of amniotic rupture. Appreciation of the mechanism which explains the disparate appearances of infants with the amniotic band disruption complex will allow more acurate diagnosis and appropriate counseling with respect to the sporadic nature of the disorder.

Abnormalities, Multiple↗
PubMed1979

The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology.

Three children with renal disease, hypertension, and the Cockayne syndrome were evaluated. All patients had severe hypertension; peripheral vein renin was elevated in two patients. Renal biopsy specimens from two patients were studied by light microscopy, electron microscopy, and immunofluoresence. Immunohistologic studies demonstrated deposits of immunoglobulin and complement in the vessels and glomeruli of the first patient; deposits of immunoglobulin and complement were seen in the glomeruli of the third patient. Also electron-dense deposits were seen in the glomerular basement membrane of the third patient. Circulating immune complexes were detected by the Raji cell and Clq binding techniques in this child as well. Both hypertension and renal disease are frequent complications of the Cockayne syndrome.

Abnormalities, Multiple↗
PubMed1978

Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome.

A patient has been studied in whom an atypical ichthyosiform erythroderma was associated with congenital neurosensory deafness, vascularization of the corneas progressing to blindness, alopecia totalis, abnormalities of the teeth and nails, and postnatal growth deficiency. Twelve other patients with a similar pattern of malformation have been reported previously. This syndrome appears to represent a distinct disorder with a pattern of inheritance which is most likely autosomal recessive.

Adolescent↗
PubMed1978

Dysmorphology: an approach to a child with structural defects.

An approach to children with structural defects has been presented. The ultimate goal of this approach is a specific overall diagnosis. In such cases appropriate genetic counseling for the parents, accurate prognostication relative to the child's future development and an appropriate plan to help the child reach his potential usually are possible. When an overall diagnosis is lacking, the most that can be expected is a better understanding of the nature and onset of the problem. That in itself can often be helpful to patients and to all others dealing with children having structural defects.

Abnormalities, Multiple↗
PubMed1978

Two forms of cutis laxa presenting in the newborn period.

Two infants are described with congenital cutis laxa. They represent two distinct disorders. In the first, congenital cutis laxa is associated with a generalized disorder of elastic tissue in which there may be diaphragmatic or other hernias, diverticula of the gastrointestinal or urinary tract and infantile emphysema. The disease is fatal often within the first year. In the second, congenital cutis laxa is associated with widely patent anterior fontanel, a variety of malformations, and retarded growth and development. Recognition of these distinct syndromes in the newborn period and their recessive inheritance permit realistic discussion of the prognosis which is very different from the benign dominant forms of cutis laxa.

Abnormalities, Multiple↗
PubMed1978

The Aase syndrome in a female infant.

This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.

Anemia, Aplastic↗
PubMed1977

Congenital skin defects and fetus papyraceus.

Two unrelated infants with congenital skin defects (aplasia cutis congenita) involving the trunk and limbs, each with an associated monozygotic twin fetus papyraceus, are described. Evidence from these two cases and a review of the literature indicate that congenital skin defects of other body areas, as represented by these two children, is a specific pattern of malformation distinct from isolated small congenital skin defects involving the vertex of the scalp. The frequent occurrence of fetus papyraceus in patients with congenital skin defects of other body areas suggests a common etiology for these two phenomena.

Adult↗