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Biomedical subjects

I Kjaer

Publications and source records attributed to I Kjaer.

At least 55 records · Page 3Linked to original sources

Pituitary gland and sella turcica in human trisomy 18 fetuses.

The purpose of this study was to elucidate the phenotypic conditions in the sella turcica/pituitary gland complex in human trisomy 18 fetuses. Fourteen human fetuses with gestational ages from 12 to 39 weeks were included in the study. Normal fetuses at corresponding ages were used as controls. Whole body and special radiographic examination was undertaken before the midsagittal cranial base block, including the pituitary gland, was excised and analyzed histologically and immunohistochemically (keratin wide spectrum [KWS], thyroid-stimulating hormone [TSH], and neurophysin [Nph]). In all trisomy 18 fetuses, TSH-positive adenopituitary tissue was present in the sella and in greater or lesser amounts pharyngeally. The neurohypophysis was Nph-positive and located normally in the sella turcica. The adenohypophyseal tissue reacted either KWS-faint or KWS-negative, whereas KWS-positive reaction occurs in normal fetuses. This circumstance might suggest an altered cytoskeletal structure of the surface ectoderm in the pituitary placode in trisomy 18. The sella turcica was malformed in all the fetuses. Very broad craniopharyngeal canals were observed in some of the fetuses. Because endocrine disorders occur in many congenital malformations, it is essential in future studies to chart the sella turcica/pituitary gland region systematically in different genotypes.

Abnormalities, Multiple↗

Human fetal hand size and hand maturity in the first half of the prenatal period.

The purpose of the present study has been to establish radiographic standards of hand length and finger bone size in the first half of the prenatal period, and to relate these measurements to general fetal size (CRL) and foot length (FL), as well as to the skeletal maturity assessed from a Composite Number of Ossified bones in hand and foot radiographs (CNO). The right hand and foot of each of 251 normal human fetuses (CRL 47-194 mm) were radiographed. From each hand radiograph hand length (DM), third proximal phalangeal bone length (PP) and third metacarpal bone length (MC) were measured. The study showed that third proximal phalangeal and metacarpal bone lengths both provide a valuable basis for estimating hand length. Both hand length and the length of the third metacarpal bone were found to be good predictors of general fetal size (CRL). The study provides standards for the relationships between hand and finger bone sizes, general fetal length and foot length. By combining third metacarpal bone size and skeletal maturity of the hand and foot general fetal development (age and crown-rump length) can be estimated. Insight into normal hand size and finger bone size at different stages of normal development including skeletal maturation is useful in future evaluation of handsize under pathological conditions.

Abortion, Therapeutic↗

Prenatal traces of aberrant neurofacial growth.

The interrelation between the development of the brain/peripheral nerves and that of the surrounding bone tissue is termed neuro-osteology. In orthodontic and pediatric practice the development of the hard tissues is evaluated radiographically, but the development of the neural tissue within the bone tissue is not evaluated. In this review the emphasis is placed on two neuro-osteologic interrelations that can be observed on profile radiographs and orthopantomograms, respectively. One is the connection between the pituitary gland of the central nervous system and the sella turcica (profile radiograph), and the other is the association between the peripheral nerves and the development of the dentition (orthopantomogram). Pituitary gland/sella turcica: The correlation between prenatal malformation in the pituitary gland/sella turcica and the postnatal morphology of the sella turcica in holoprosencephaly, spina bifida/myelomeningocele, and cri-du-chat syndrome is demonstrated. Peripheral nerves/dentition: The prenatal innervation of the dentition is presented. Agenesis and tooth malformation occur in constant patterns within the dental arch fields that share the same innervation. The findings demonstrate that in postnatal diagnosis of the cranium and the teeth, traces of prenatal aberrations can be found that are important for neurofacial growth.

Anodontia↗

The sella turcica in children with lumbosacral myelomeningocele.

The purpose of the present study was to analyze the morphology of the sella turcica in children born with myelomeningocele. Profile radiographs from 16 children (nine females and seven males) born with myelomeningocele were analysed. The contour of the anterior wall of the sella turcica in myelomeningocele patients, instead of following the normal cranio-caudal direction, was always in an obliquely antero-posterior direction. The sella turcica thus appeared broad cranially with a diverging anterior wall, or with both diverging anterior and posterior walls. This appearance gave and impression of a wide sella turcica in myelomeningocele with less depth than normal. The investigation has drawn attention to the fact that congenital malformations in the axial skeleton, even though, as in the case of myelomeningocele, they are located far from the cranial base, may have manifested themselves in the cranial base as well. The pathogenetic relationship between these manifestations is to be found in the early embryonic structure, the notochord. With the concept of embryological developmental fields, defined as areas with a common developmental origin, such as the notochordal field involved in myelomeningocele, new ways seem to be emerging for an improvement of aetiologically based diagnosis and treatment.

Adolescent↗

Neuro-osteology.

Neuro-osteology stresses the biological connection during development between nerve and hard tissues. It is a perspective that has developed since associations were first described between pre-natal peripheral nerve tissue and initial osseous bone formation in the craniofacial skeleton (Kjaer, 1990a). In this review, the normal connection between the central nervous system and the axial skeleton and between the peripheral nervous system and jaw formation are first discussed. The early central nervous system (the neural tube) and the axial skeleton from the lumbosacral region to the sella turcica forms a unit, since both types of tissue are developmentally dependent upon the notochord. In different neurological disorders, the axial skeleton, including the pituitary gland, is malformed in different ways along the original course of the notochord. Anterior to the pituitary gland/sella turcica region, the craniofacial skeleton develops from prechordal cartilage, invading mesoderm and neural crest cells. Also, abnormal development in the craniofacial region, such as tooth agenesis, is analyzed neuro-osteologically. Results from pre-natal investigations provide information on the post-natal diagnosis of children with congenital developmental disorders in the central nervous system. Examples of these are myelomeningocele and holoprosencephaly. Three steps are important in clinical neuro-osteology: (1) clinical definition of the region of an osseous or dental malformation, (2) embryological determination of the origin of that region and recollection of which neurological structure has developed from the same region, and (3) clinical diagnosis of this neurological structure. If neurological malformation is the first symptom, step 2 results in the determination of the osseous region involved, which in step 3 is analyzed clinically. The relevance of future neuro-osteological diagnostics is emphasized.

Anodontia↗

Palate structure in human holoprosencephaly correlates with the facial malformation and demonstrates a new palatal developmental field.

In this study we analyzed palate structure in holoprosencephaly and correlated it with the facial malformations. Eleven human holoprosencephalic fetuses (three cyclopic, two ethmocephalic, one cebocephalic, four with median cleft lip, and one with short philtrum) at 17-23 weeks of gestation and three children (age 2 1/2, 6 and 7 years) with a single central incisor were studied. Photographic and radiographic methods were used. We found that in holoprosencephaly palate structure is abnormal. The severity of this malformation decreases with decreasing severity of facial malformation. Thus, the study shows a close relationship between the facial and the palatal malformation. In all phenotypes the premaxillary area is malformed. From this region, a fan-shaped field along the midpalatal suture is involved in all facial phenotypes, the fan being broadest in cyclopia and narrowest in the short philtrum malformation. A similar fan-shaped field can be discerned in the face, where the broadest fan also indicates the greatest severity with cyclopia, and the narrowest fan the least severe median lip malformation. In the palate field, the anteroposterior furrows seemingly demarcate the field. The findings may be of importance for the future evaluation of palatal malformations in children.

Child↗

Pattern of malformations in the axial skeleton in human triploid fetuses.

We examined the axial skeleton in 15 human triploid fetuses (10 with XXX and 5 with XXY sex chromosomes). All fetuses 14-29 weeks of gestational age (GA), underwent whole-body radiography, permitting analysis of the nasal bone and the spine. From 9 of these, detailed radiographs were taken of midsagittal blocks of the cranial base and the spine, permitting detailed analysis of the cranial base. NASAL BONE: Of 14 fetuses, where the nasal bone was seen on lateral projection, it appeared short in 10 cases. SPINE: The spine was normal in 7 of 15 fetuses; malformations occurred in 8. These were osseous fusions between 2 or more vertebral bodies, most frequently in the cervical and thoracic regions, and disproportions in the sizes of the cervical bodies. Fusions occurred in 5 cases alone, and in one case in combination with disproportions of vertebral size. Disproportions alone occurred in 2 cases. CRANIAL BASE: Malformation of the basilar part of the occipital bone was found in 5 of the 9 fetuses investigated. Of 9 fetuses, bilateral ossification centers of the postsphenoid bone occurred in 7, and shell-like ossification centers in 2. There was no difference in the type of malformations in the different axial fields related to genotype (XXX and XXY). CONCLUSION: The most remarkable findings in the axial skeleton of triploid fetuses are vertebral fusions in 6 of 15 cases; clefts of vertebral bodies, previously reported as common findings in trisomy fetuses, are not demonstrated.

Abnormalities, Multiple↗

Cervical ribs in fetuses with Ullrich-Turner syndrome.

The purpose of this study was to analyze the cervical skeleton in fetuses with Ullrich-Turner syndrome (45,X) in a search for skeletal characteristics in the neck region affected by hygroma. In connection with requested autopsies, 9 second trimester human fetuses were investigated radiographically by whole-body and special radiography of the spine. The presence of unilateral or bilateral cervical ribs was a constant finding which seems applicable as a phenotypic characteristic of Ullrich-Turner syndrome. This study may also be important in the diagnosis of newborn infants with Ullrich-Turner syndrome.

Cervical Vertebrae↗

Pattern of malformations in the axial skeleton in human trisomy 13 fetuses.

The purpose of this study was to analyse the development of the axial skeleton in human trisomy 13 fetuses and to define which fields in the axial skeleton are affected in this condition. We investigated nine human fetuses with trisomy 13 and gestational ages of 14-19 weeks. Whole body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In the youngest fetus, 14 w GA, no malformations were observed. In eight fetuses, 17-19 weeks GA, malformations occurred in the lumbosacral spine. In four fetuses additional malformations were observed in the thoracic spine. The study showed that there was a correspondence between the extent of malformation in the lumbosacral spine and the thoracic spine. When mild malformation occurred in the lumbosacral region, no malformation was observed in the thoracic region, whereas malformation was observed in the thoracic region when there was extensive malformation in the lumbosacral region. Malformations did not occur in the cervical spine or the basilar part of the occipital bone, but the postsphenoidal part of the sphenoid bone was small and irregular in the six cases where it could be examined. In seven fetuses there was malformation or agenesis of the nasal bone. This pattern of axial skeletal malformations in trisomy 13 fetuses was not described previously. Comparisons are made with previous studies of the fetal axial skeleton in trisomy 18 and trisomy 21, where the pattern of malformations was different. We reiterate our recommendation that axial skeletal radiography should be part of the postmortem examination of fetuses with suspected or verified chromosome abnormalities.

Abnormalities, Multiple↗

Pattern of malformations in the axial skeleton in human trisomy 21 fetuses.

In the present study, we analyzed the development of the axial skeleton in human trisomy 21 fetuses and defined the fields in the axial skeleton affected in this form of aneuploidy. We investigated 31 human fetuses with trisomy 21, gestational ages 12-24 weeks, on the basis of radiographs of midsagittal tissue blocks of the axial skeleton, comprising the cranial base and the spine. Malformation or agenesis of the nasal bone was present in 19 of 31 fetuses. Nineteen cases had vertebral malformations. Fourteen fetuses had malformations in the cervical region, four in the thoracic and eight in the lumbosacral region. In 1 of 31 fetuses, malformation was seen in the basilar part of the occipital bone. The basisphenoid component appeared scallop-shaped in 30 cases. The pattern of axial skeletal malformations in trisomy 21 fetuses recorded here has not been described previously. Comparison is made with our recent study of trisomy 18, where the pattern of axial skeletal malformations was quite different. It is recommended that axial skeletal radiography should be part of the autopsy of fetuses where chromosome abnormalities are known or suspected.

Bone and Bones↗

Comparison of the pattern of agenesis in the primary and permanent dentitions in a population characterized by agenesis in the primary dentition.

The first aim of this study was to collect a large sample of radiographs from children with congenitally missing teeth (CMT) in the primary dentition and to analyse the local relationship between agenesis of a primary tooth and the presence/absence of its permanent successor. The second aim was to compare, in the same sample, the pattern of agenesis in the primary dentition with the developmental pattern seen in the permanent dentition. 124 dentists from 72 municipalities contributed to the investigation of a total of 213 children. The dentists were asked to lend existing radiographic material from patients with agenesis in the primary dentition. The analysis of the local occurrence of agenesis showed that agenesis of a primary incisor was often but not always followed by agenesis of the succedaneous tooth. In the molar region, agenesis of a primary tooth was in all cases but one followed by agenesis of the succedaneous tooth. Comparison of the pattern of CMT in the primary dentition with the pattern of tooth presence/absence in the permanent dentition in a group of 33 patients, for whom complete radiographic material was available showed that agenesis always occurred in the permanent dentition and that the pattern of agenesis in the permanent dentition differed from that in the primary dentition. Incisors were most frequently missing in the primary dentition and premolars in the permanent dentition. The number of congenitally missing teeth was substantially larger in the permanent dentition that in the primary dentition. Also, permanent teeth that are very rarely congenitally missing were missing in this sample, characterized by the occurrence of agenesis in the primary dentition.

Adolescent↗

Pattern of agenesis in the primary dentition: a radiographic study of 193 cases.

The purpose of this study was to examine radiographs of a large sample of children who had congenital absence of primary teeth and to determine the number and distribution of the missing teeth. Radiographs collected within the Danish Municipal Child Oral Health Care System were available of 193 children, all of whom had congenital absence of one or more primary teeth but no other abnormalities in the jaws or dentition. More than half of the children (54.9%) had agenesis of only one primary tooth, and 7.8% of more than two primary teeth. Agenesis was found twice as frequently in the maxillary lateral incisor region (119 children) than in the mandibular lateral incisor region (53 children). Congenital absence of primary molars, canines and maxillary central incisors was extremely rare. However, agenesis of one maxillary primary central incisor was found in two cases. A follow-up study will compare the agenesis patterns recorded with the pattern of agenesis in the permanent dentition of the same group of children.

Anodontia↗

Location of alveolar clefts relative to the incisive fissure.

OBJECTIVE: The purpose of this study was to investigate, in a normal human fetal sample, the development of the anterior area of the palate. Emphasis has been placed on the bilateral epithelial fusion lines between the soft-tissue palatal shelves and the premaxillary mucosa, and on the relationship between these fusion lines and the locations of the inclusive fissures and of the tooth buds. The goal was to evaluate how the location of clefts in cleft lip and palate (CLP) patients interferes with tooth buds that are often affected in clefting. DESIGN: Nineteen maxillas of human fetuses underwent histologic examination after serial horizontal sectioning. Superimpositions of tracings from photographs of the histologic sections yielded information on the maxillary morphology at different levels. RESULTS: After elevation and fusion of the soft-tissue palatal shelves, the palatal fusions were Y-shaped. During subsequent osseous palate development, including formation of the incisive fissure and intermaxillary suture, the Y-shaped epithelial fusions disintegrated. The locations of the anterior arms of the epithelial Y and of the incisive fissure did not coincide. CONCLUSIONS: The incisive fissure is likely not the location of clefts in CLP. The location of anterior palatal clefting in CLP patients follows the original course of the epithelial fusion between the palatal shelves and the premaxillary mucosa found in the region of the lateral incisors.

Alveolar Process↗

Craniofacial morphology in patients with Kallmann's syndrome with and without cleft lip and palate.

OBJECTIVE: Kallmann's syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. The principal endocrine defect of hypogonadotropic hypogonadism is a failure to secrete luteinizing hormone-releasing hormone (LHRH), resulting in underdevelopment of the pituitary gonadotropes and an inability to synthesize and release luteinizing hormone and follicle-stimulating hormone. The purpose of the present investigation was to describe the dentition and the craniofacial morphology in patients diagnosed with Kallmann's syndrome. DESIGN: The sample consisted of 11 patients, 2 of whom also had bilateral cleft lip and palate. Radiographic investigations, including cephalometry, were performed. Comparisons were made to normal individuals and to cleft lip individuals without Kallmann's syndrome. RESULTS: Dentition: tooth agenesis occurred more frequently in patients with Kallmann's syndrome. Craniofacial morphology: Increased mandibular inclination and mandibular angulation were seen in Kallmann patients. When clefting also occurred, extreme retrognathism of both maxilla and mandible was seen, a deviation which seemingly worsened during growth. The anterior cranial base and the sphenoid bone showed an altered morphology in one of the patients with Kallman's syndrome. CONCLUSIONS: An early diagnosis of Kallmann's syndrome is very important because the prognosis for endocrine treatment thereby improves, and therefore, it is recommended that the sense of smell be evaluated in patients with the craniofacial morphology described.

Adolescent↗

Growth in the external cranial base evaluated on human dry skulls, using nerve canal openings as references.

The purpose of this investigation was to measure on human dry skulls the postnatal widening and lengthening of the external cranial base, including the hard palate, using nerve canal openings as references. Forty-five Indian dry skulls were examined, 36 from children and 9 from adults. The age evaluation was made on the basis of dental development. The dimensions of the external cranial base were determined by direct measurements on the skulls and by measurements from photographs of the skulls. The study showed that growth in width of the external cranial base followed two distinct patterns. The two regions represent different embryologic developmental fields. The study points out that different growth patterns in these fields ought to be taken into account in future investigations of normal and pathologic craniofacial growth.

Adolescent↗

Can the location of tooth agenesis and the location of initial bone loss seen in juvenile periodontitis be explained by neural developmental fields in the jaws?

Recent studies on prenatal innervation of the jaws have shown that three separate main innervation paths, constituting three bilateral neural developmental fields (incisor field, canine/premolar field, molar field) exist in each jaw. In this communication the sequences in which the fields are innervated are indicated. These correspond to the sequences of formation of teeth and jawbone. The normal pattern of tooth agenesis is closely related to the neural fields, as the region within a single field were innervation occurs last is always the area most often affected by tooth agenesis. The initial manifestations of juvenile periodontitis also appear at the sites within the different fields where innervation occurs last. It is suggested that the pubertal growth of the alveolar process does not occur in these regions due to deficient innervation, and that the infection in juvenile periodontitis might be secondary to this regional lack of bone apposition.

Aggressive Periodontitis↗

Pattern of malformations in the axial skeleton in human trisomy 18 fetuses.

We examined and described the development and abnormalities of the axial skeleton in 10 human trisomy 18 fetuses. Whole-body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In 3 fetuses no spinal radiographs were available. Seven osseous regions or fields along the body axis were analyzed, four in the spine, and three in the cranial base and nasal bones. Malformations occurred in the occipital field in all fetuses. This was a characteristic notching, either unilateral or bilateral, of the basilar part of the occipital bone. Nasal bones were abnormal in 8 cases, either absent or hypoplastic. Malformations were found in the thoracic and/or lumbosacral field in 7 fetuses. A single abnormality was found in the cervical spine in one fetus. The pattern of axial skeletal malformation in trisomy 18 fetuses recorded in the present study has not been described previously. Axial skeletal radiography should be included in autopsies of fetuses when chromosome disorders are present or suspected. The methods applied here are unaffected by autolysis.

Chromosomes, Human, Pair 18↗

Human palatal growth evaluated on medieval crania using nerve canal openings as references.

The purpose of this investigation was to measure postnatal lengthening and widening of the hard palate by use of nerve canal openings as references. The relationship of the dentition to the greater palatine foramina was also investigated. Thirty-nine medieval dry skulls were examined, 22 from children and 17 from adults. All crania were photographed at a 1.1 scale. The dimensions of the maxilla and the location of the dentition were determined from the photographs. The study showed that palatal growth in length in the sagittal plane takes place anterior to the greater palatine foramen. The growth increment in the area between the incisive foramen and the transverse palatine suture is more pronounced than the growth increment in the area between the transverse palatine suture and the greater palatine foramen. The distance from the greater palatine foramina to the posterior margin of the palate did not increase significantly with age. The growth in width seems to continue into adult life. The first permanent molars and the surrounding bone are moved forwards in relation to the greater palatine foramina during growth. The space for the developing maxillary premolars and molars therefore has to be obtained by growth in the transverse palatine suture.

Adult↗