The skull in gonadal dysgenesis a roentgenometric study

Rzymski, K; Kosowicz, J

doi:10.1016/s0009-9260(75)80082-1

Cited by 15 publications

(7 citation statements)

References 10 publications

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“…Dental and alveolar arches are measured clinically or from hard stone models, while basal arches can be measured only in roentgenometric studies. Filipsson et al (1965) measured widths of the dental, not the alveolar, arches and found Turner patients to have a wider mandibular arch than controls, consistent with our findings and with those of Rzymski and Kosowicz (1975). Jensen (1974) found the mandible in 45,X females to be broadened in the dento-alveolar region but narrow in the basal part.…”

Section: Resultssupporting

confidence: 87%

“…With regard to bigonial diameter of the mandible, the anthropometric measurements also faintly suggest increased transverse growth (Varrela et al, 1984). One possible explanation could be, as Rzymski and Kosowicz (1975) suggest, continuous growth of the mandible after the age of puberty due to the sex-chromosome deficiency and consequent delay in epiphyseal fusion.…”

Section: Resultsmentioning

confidence: 99%

“…In the present sample, however, the palate has been found to be narrow but high only in relative terms . Rzymski and Kosowicz (1975) reported the mandible in half of their patients to be heavier than in normal girls and women and also frequently square with pronounced angles, resembling a man's jaw.…”

Section: Introductionmentioning

confidence: 96%

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Size of the Alveolar Arch of the Mandible in Relation to that of the Maxilla in 45,X Females

Laine

Alvesalo

1986

J Dent Res

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Length and width of the alveolar arch of the mandible and maxilla were determined from hard stone casts of 45,X females (Turner syndrome), female first-degree relatives, and population control females. Adjusted mean values (covariance adjusted for age, previous orthodontic treatment, and number of lost permanent teeth) for mandibular arch width were larger in 45,X females than in normal controls, both absolutely and, more clearly, in relation to the maxillary arch. The total absolute length of the mandibular arch was slightly reduced in 45,X females. The broader and shorter alveolar arch of the mandible in relation to the narrower but normal-length maxillary arch reflects imbalanced facial growth in subjects with one X-chromosome instead of the normal two.

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Section: Resultssupporting

confidence: 87%

Section: Resultsmentioning

confidence: 99%

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Size of the Alveolar Arch of the Mandible in Relation to that of the Maxilla in 45,X Females

Laine

Alvesalo

1986

J Dent Res

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“…The 45X0 karyotype is estimated to be present in 3% of all conceptions, but almost 99% of these abnormal fetuses spontaneously abort, usually during the first trimester of the pregnancy, accounting for up to 10% of all spontaneous abortions [22]. The cephalometric data available for individuals with Turner syndrome include: a) Skull: Posterior cranial base exhibiting reduced length and cranial base angle being increased (increased angle of flexion), causing a flattening of the cranial base [23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39], smaller dimensions of the calvarium of the skull [35,37], reduced thickness of the calvarium [39], fused cervical vertebrae [40], a more inferiorly and anteriorly placed external acoustic meatus [41], smaller and more delicate mastoid processes and of reduced pneumatization, larger and excessively pneumatized sphenoidal sinuses, smaller Sella turcica [42], premature calcification of the petro-clinoid ligament in patients before the age of 20 [39], small facial part of the skull compared with the cerebral part [39], retarded development of the cranial skeleton affecting appositional and sutural growth, as well as growth in the condylar cartilage and the spheno-occipital synchondrosis [43]. Most prominent discrepancies from normal controls are observed in 45X0 individuals, while milder phenotype is noted in individuals bearing an isochromosome and even milder differences in mosaic 45X0/46XX individuals [24,25,35].…”

Section: Turner Syndrome (Omim 309585)mentioning

confidence: 99%

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Paltoglou,

Ziakas,

Chrousos

et al. 2024

Preprint

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Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological center of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of the relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the key words: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and “Turner syndrome”; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its etiology. The angular cephalometric measurements differ from the average height normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusion: The greater part of the existing literature regarding cephalometric measurements in short statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature, should be the focus of future studies. These quantitative data are required to potentially establish cut-off values to refer for genetic testing based on craniofacial phenotypes.

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“…Additionally, girls with TS usually have distinctive craniofacial features, such as gothic palate, crossbite, retrognathia with microgenia, and trigonocephaly [74,79]. Furthermore, based on radiographs of the skull, Rzymski and Kosowicz observed the following characteristic findings: increased angle of the skull base, smaller sella turcica, decreased dimensions of the mastoid processes, enlarged and thicker mandible (as in males), and excessive pneumatisation of paranasal sinuses [87]. In reference to our recent unpublished study, including 37 TS patients with radiographs of the cranium and both extremities, the characteristic symptoms of TS, i.e.…”

Section: Xxxxymentioning

confidence: 99%

Skeletal and dental abnormalities in patients with sex chromosome aberrations: a systematic case-based review

Gruszczyński¹,

Nijakowski²,

Wolska-Bułach³

et al. 2022

polp

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Sex chromosome aneuploidies (SCAs) are common chromosomal disorders characterised by an atypical number of sex chromosomes. Turner syndrome (TS), Klinefelter syndrome (KS), and Jacobs syndrome (JS) are associated with a wide spectrum of skeletal manifestations, including craniofacial and limb anomalies. This systematic review aimed to analyse the incidence of skeletal abnormalities in selected SCAs based on case reports. In this review, 55 articles were included from the MEDLINE/PubMed and Google Scholar databases, according to PRISMA guidelines. High-arched palate, skeletal class II, and cubitus valgus were most frequently demonstrated among TS patients. Patients with KS and JS most often presented micrognathia, hypertelorism, and flat nasal bridge in the craniofacial region. In contrast, radioulnar synostosis, clinodactyly, and pes planus could be observed in the limbs of KS patients. The presence of dysmorphic facial features and limb malformations may indicate SCAs, which are underdiagnosed in the general population due to a variety of phenotypes.

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The skull in gonadal dysgenesis a roentgenometric study

Cited by 15 publications

References 10 publications

Size of the Alveolar Arch of the Mandible in Relation to that of the Maxilla in 45,X Females

Size of the Alveolar Arch of the Mandible in Relation to that of the Maxilla in 45,X Females

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Skeletal and dental abnormalities in patients with sex chromosome aberrations: a systematic case-based review

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