scholarly journals Foramen Magnum Stenosis in Achondroplasia

2021 ◽  
Vol 8 (4) ◽  
Author(s):  
Choayb S ◽  
◽  
Adil H ◽  
El Haddad S ◽  
◽  
...  
Keyword(s):  
Sudden Death ◽  
Skull Base ◽  
Short Stature ◽  
Skeletal Dysplasia ◽  
Endochondral Ossification ◽  
Foramen Magnum ◽  
Severe Complication ◽  
Occipital Bone ◽  
Severe Morbidity ◽  
Cervicomedullary Junction

Achondroplasia is the most common hereditary skeletal dysplasia and is characterized by disproportionately short stature with rhizomelic short extremities [1]. The skull features include a narrowed foramen magnum, short skull base, and clivus [2]. Foramen magnum stenosis is a characteristic funding, secondary to an abnormal placement and premature fusion of the posterior synchondroses [1]. The second factor responsible for stenosis is a defect in endochondral ossification in the basiocciput that may result in an extension of the squamous occipital bone [2]. It can cause hydrocephalus and prominent emissary and meningeal veins (Figure 1). Figure 1: Sagittal T1WI revealing a narrowed stenosis of the foramen magnum and compression of the cervicomedullary junction. The most severe complication is the compression of the cervicomedullary junction, associated with severe morbidity and sudden death in younger children [1].

Two-year-old girl with cervicomedullary junction stenosis and an unknown type of skeletal dysplasia

2008 ◽  
Vol 2 (3) ◽  
pp. 200-202
Author(s):  
Samuel Henry Cheshier ◽  
Mohammad Yashar Sorena Kalani ◽  
Arjun Pendakaur ◽  
Dominique Higgins ◽  
David Kahn ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Cranial Nerve ◽  
Cranial Nerve Palsy ◽  
Nerve Palsy ◽  
Foramen Magnum ◽  
Occipital Bone ◽  
Lower Cranial Nerve ◽  
Unknown Type ◽  
Cervicomedullary Junction ◽  
Lower Cranial Nerve Palsy

The authors present a novel case of skeletal dysplasia in a 2.8-year-old girl. The patient presented with progressive lower cranial nerve palsy and myelopathy due to constriction at the cervicomedullary junction caused by overgrowth of the occipital bone of the foramen magnum and the C-1. She also had prominent bone overgrowth of the superior orbital ridges, resulting in excessive stretching of periorbital skin and an inability to fully close her eyes.

HISTOPATHOLOGICAL ANALYSIS OF LERI-WEILL DYSCHONDROSTEOSIS: DISORDERED GROWTH PLATE

Hand Surgery ◽  
2001 ◽  
Vol 06 (01) ◽  
pp. 13-23 ◽  
Author(s):  
C. F. J. Munns ◽  
I. A. Glass ◽  
R. LaBrom ◽  
M. Hayes ◽  
S. Flanagan ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Plate ◽  
Distal Radius ◽  
Skeletal Dysplasia ◽  
Endochondral Ossification ◽  
Homeobox Gene ◽  
Histopathological Study ◽  
Molecular Testing ◽  
Histopathological Analysis ◽  
Triangular Fibrocartilage

Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the distal radius. It results from the loss of one copy of the Short Stature Homeobox Gene (SHOX) from the tip of the short arm of the X or Y chromosome. SHOX molecular testing enabled us to evaluate the histopathology of the radial physis in LWS patients with a documented SHOX abnormality. A widespread disorganisation of physeal anatomy was revealed with disruption of the normal parallel columnar arrangement of chondrocytes. Tandem stacking of maturing chondrocytes within columns was replaced by a side-by-side arrangement. The presence of hypertrophic osteoid with micro-enchondromata in the radial metaphysis suggests abnormal endochondral ossification. The Vickers' ligament was confirmed to blend with the triangular fibrocartilage complex (TFCC). This histopathological study demonstrates that the zone of dyschondrosteosis in LWS is characterised by marked disruption of normal physeal chondrocyte processes and that a generalised physeal abnormality is present.

scholarly journals Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Marianne Jacob ◽  
Surabhi Menon ◽  
Christina Botti ◽  
Ian Marshall
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Skeletal Dysplasia ◽  
Endochondral Ossification ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Loss Of Function ◽  
Peptide Receptor ◽  
Radiological Features ◽  
Severe Short Stature

Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the NPR2 gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. Heterozygous NPR2 mutations have been reported in patients previously classified with idiopathic short stature (ISS). We report the presentation of a 7-year-old girl and her mother with short stature, both of whom were identified with the same NPR2 mutation, and who demonstrated clinical and radiological features consistent with a skeletal dysplasia. We also report the patient’s response to recombinant human growth hormone (rhGH) over a 2-year period. We encourage clinicians who evaluate children with ISS to consider genetic testing, particularly when the presentation is associated with features suggestive of a skeletal dysplasia.

scholarly journals Expanded endonasal approach: the rostrocaudal axis. Part II. Posterior clinoids to the foramen magnum

2005 ◽  
Vol 19 (1) ◽  
pp. 1-7 ◽  
Author(s):  
Amin Kassam ◽  
Carl H. Snyderman ◽  
Arlan Mintz ◽  
Paul Gardner ◽  
Ricardo L. Carrau
Keyword(s):  
Skull Base ◽  
Surgical Techniques ◽  
Case Series ◽  
Foramen Magnum ◽  
Anterior Skull Base ◽  
Anatomical Landmarks ◽  
Endonasal Approach ◽  
Cervicomedullary Junction ◽  
Caudal Portion ◽  
Expanded Endonasal Approach

Object Transsphenoidal approaches have been used for a century for the resection of pituitary and other sellar tumors. Recently, however, the standard endonasal approach has been expanded to provide access to other parasellar lesions. With the addition of the endoscope, this expansion has significant potential for the resection of skull base lesions. Methods The anatomical landmarks and surgical techniques used in expanded (extended) endoscopic approaches to the clivus and cervicomedullary junction are reviewed and presented, accompanied by case illustrations of each segment (or module) of approach. The caudal portion of the midline anterior skull base and the cervicomedullary junction is divided into modules of approach: the middle third of the clivus, its lower third, and the cervicomedullary junction. Case illustrations of successful resections of lesions via each module of the approach are presented and discussed. Conclusions Endoscopic expanded endonasal approaches to caudally located midline anterior skull base and cervicomedullary lesions are feasible and hold great potential for decreased morbidity. The effectiveness and appropriate use of these techniques must be evaluated by close examination of outcomes as case series expand.

Histology of the vertebral artery–dural junction: relevance to posterolateral approaches to the skull base

2019 ◽  
pp. 1-6
Author(s):  
Robert C. Rennert ◽  
Martin P. Powers ◽  
Jeffrey A. Steinberg ◽  
Takanori Fukushima ◽  
John D. Day ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Vertebral Artery ◽  
Skull Base ◽  
Histological Analysis ◽  
Foramen Magnum ◽  
Entry Site ◽  
Microsurgical Technique ◽  
Vessel Injury ◽  
Far Lateral ◽  
Clear Delineation

OBJECTIVEThe far-lateral and extreme-lateral infrajugular transcondylar–transtubercular exposure (ELITE) and extreme-lateral transcondylar transodontoid (ELTO) approaches provide access to lesions of the foramen magnum, inferolateral to mid-clivus, and ventral pons and medulla. A subset of pathologies in this region require manipulation of the vertebral artery (VA)–dural interface. Although a cuff of dura is commonly left on the VA to avoid vessel injury during these approaches, there are varying descriptions of the degree of VA-dural separation that is safely achievable. In this paper the authors provide a detailed histological analysis of the VA-dural junction to guide microsurgical technique for posterolateral skull base approaches.METHODSAn ELITE approach was performed on 6 preserved adult cadaveric specimens. The VA-dural entry site was resected, processed for histological analysis, and qualitatively assessed by a neuropathologist.RESULTSHistological analysis demonstrated a clear delineation between the intima and media of the VA in all specimens. No clear plane was identified between the connective tissue of the dura and the connective tissue of the VA adventitia.CONCLUSIONSThe VA forms a contiguous plane with the connective tissue of the dura at its dural entry site. When performing posterolateral skull base approaches requiring manipulation of the VA-dural interface, maintenance of a dural cuff on the VA is critical to minimize the risk of vascular injury.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

2021 ◽  
Author(s):  
Lucia Sentchordi-Montané ◽  
Sara Benito-Sanz ◽  
Miriam Aza-Carmona ◽  
Francisca Díaz-González ◽  
Silvia Modamio-Høybjør ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Genetic Defect ◽  
Radiological Feature ◽  
Molecular Defect ◽  
Skeletal Dysplasias ◽  
Skeletal Anomalies ◽  
Radiological Data ◽  
High Prevalence ◽  
Next Generation Sequencing Ngs

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n=10) and IHH (n=7) whilst one variant was detected in COL2A1, CREBBP, EXT1 and PTPN11. Statistically significant differences (p<0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio SDS and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.

scholarly journals Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant

2017 ◽  
Vol 55 (6) ◽  
pp. 403-407 ◽  
Author(s):  
Noor ul Ain ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
In Silico ◽  
Autosomal Recessive ◽  
Limb Deformity ◽  
Mild Phenotype ◽  
Whole Exome ◽  
New Type ◽  
Severe Short Stature ◽  
Amino Acid Conservation

BackgroundHeterozygous mutations in COL10A1 underlie metaphyseal chondrodysplasia, Schmid type (MCDS), an autosomal dominant skeletal dysplasia.ObjectiveTo identify the causative variant in a large consanguineous Pakistani family with severe skeletal dysplasia and marked lower limb deformity.MethodsWhole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. In silico variant pathogenicity predictions and amino acid conservation analyses were performed.ResultsA homozygous c.133 C>T (p.Pro45Ser) variant was identified in COL10A1 in all six severely affected individuals (adult heights 119–130 cm, mean ~−6.33 SD). The individuals heterozygous for the variant had mild phenotype of short stature (adult heights 140–162 cm, mean ~−2.15 SD) but no apparent skeletal deformities. The variant was predicted to be pathogenic by in silico prediction tools and was absent from public databases and hundred control chromosomes. Pro45 is conserved in orthologues and is located in the non-collagenous 2 domain of COL10A1, variants of which have never been associated with skeletal dysplasia.ConclusionsThis first report of individuals with a homozygous variant in COL10A1 defines a new type of autosomal recessive skeletal dysplasia. The observations in COL10A1 variant carriers suggest a phenotypic overlap between the mildest forms of MCDS and idiopathic short stature.

scholarly journals Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

2011 ◽  
Vol 96 (2) ◽  
pp. E404-E412 ◽  
Author(s):  
S. Benito-Sanz ◽  
E. Barroso ◽  
D. Heine-Suñer ◽  
A. Hisado-Oliva ◽  
V. Romanelli ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Copy Number ◽  
Clinical Manifestations ◽  
Idiopathic Short Stature ◽  
Pseudoautosomal Region ◽  
Height Gain ◽  
Multiple Copies ◽  
Copy Number Changes ◽  
Design And Methods

abstract Context: Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approximately 15% of idiopathic short stature (ISS) individuals. Recently SHOX duplications have been described in LWD/ISS but also in individuals with other clinical manifestations, thus questioning their pathogenicity. Objective: The objective of the study was to investigate the pathogenicity of SHOX duplications in LWD and ISS. Design and Methods: Multiplex ligation-dependent probe amplification is routinely used in our unit to analyze for SHOX/pseudoautosomal region 1 copy number changes in LWD/ISS referrals. Quantitative PCR, microsatellite marker, and fluorescence in situ hybridization analysis were undertaken to confirm all identified duplications. Results: During the routine analysis of 122 LWD and 613 ISS referrals, a total of four complete and 10 partial SHOX duplications or multiple copy number (n &gt; 3) as well as one duplication of the SHOX 5′ flanking region were identified in nine LWD and six ISS cases. Partial SHOX duplications appeared to have a more deleterious effect on skeletal dysplasia and height gain than complete SHOX duplications. Importantly, no increase in SHOX copy number was identified in 340 individuals with normal stature or 104 overgrowth referrals. Conclusion: MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.

scholarly journals A black mass at skull base – Foramen magnum melanocytic meningioma

2021 ◽  
Vol 23 ◽  
pp. 100899
Author(s):  
Udaykumar Badhe ◽  
Rohit Balasubramanian ◽  
Shriram Varadhrajan ◽  
R. Subramaniam
Keyword(s):  
Skull Base ◽  
Foramen Magnum
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