-
Journal of Orthopaedic Research :... Apr 2013Individuals with multiple osteochondromas (MO) demonstrate shortened long bones. Ext1 or Ext2 haploinsufficiency cannot recapitulate the phenotype in mice. Loss of...
Individuals with multiple osteochondromas (MO) demonstrate shortened long bones. Ext1 or Ext2 haploinsufficiency cannot recapitulate the phenotype in mice. Loss of heterozygosity for Ext1 may induce shortening by steal of longitudinal growth into osteochondromas or by a general derangement of physeal signaling. We induced osteochondromagenesis at different time points during skeletal growth in a mouse genetic model, then analyzed femora and tibiae at 12 weeks using micro-CT and a point-distribution-based shape analysis. Bone lengths and volumes were compared. Metaphyseal volume deviations from normal, as a measure of phenotypic widening, were tested for correlation with length deviations. Mice with osteochondromas had shorter femora and tibiae than controls, more consistently when osteochondromagenesis was induced earlier during skeletal growth. Volumetric metaphyseal widening did not correlate with longitudinal shortening, although some of the most severe shortening was in bones with abundant osteochondromas. Loss of heterozygosity for Ext1 was sufficient to drive bone shortening in a mouse model of MO, but shortening did not correlate with osteochondroma volumetric growth. While a steal phenomenon seems apparent in individual cases, some other mechanism must also be capable of contributing to the short bone phenotype, independent of osteochondroma formation. Clones of chondrocytes lacking functional heparan sulfate must blunt physeal signaling generally, rather than stealing growth potential focally.
Topics: Animals; Disease Models, Animal; Doxycycline; Exostoses, Multiple Hereditary; Femur; Growth Plate; Haploinsufficiency; Loss of Heterozygosity; Male; Mice; N-Acetylglucosaminyltransferases; Phenotype; Tibia
PubMed: 23192691
DOI: 10.1002/jor.22280 -
Poultry Science Nov 1980Broiler chicks fed corn-soy rations supplemented with toxic levels of magnesium from one day of age grew poorly, developed diarrhea, and exhibited characteristic...
Broiler chicks fed corn-soy rations supplemented with toxic levels of magnesium from one day of age grew poorly, developed diarrhea, and exhibited characteristic skeletal abnormalities. Tibiae from magnesium intoxicated chicks were shortened, thickened, and bowed. Percent tibial ash was greatly reduced. Upon microscopic examination, the bone lesion appeared rachitic as evidenced by widened and lengthened growth plates, excessive osteoid seams on endochandral bone, and osteoid or bone capped metaphyseal blood vessels with very few associated osteoblasts. Tibial calcium to phosphorus mass ratios decreased while tibial magnesium to phosphorus mass ratios increased concomitantly with increased dietary magnesium. Calcium and phosphorus homeostasis was possibly affected as evidenced by a general decrease in size and cellularity of parathyroid glands and a general increase in size and cellularity of ultimobranchial glands.
Topics: Animals; Bone Diseases; Chickens; Magnesium; Parathyroid Diseases; Poultry Diseases; Tibia; Ultimobranchial Body
PubMed: 7465508
DOI: 10.3382/ps.0592403 -
Annali Di Stomatologia 2017Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth...
INTRODUCTION
Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form.
CASE REPORT
We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity. Relying on patient's medical history and the performed diagnostic tests, the diagnosis of craniometaphyseal dysplasia was made.
CONCLUSION
After careful evaluation of the clinical case, in accordance with the requirements of the patient, we opted for a surgical treatment aimed at correction of functional limitation of temporomandibular joint and aesthetic improvement of the facial bones. The stability of the clinical results led us to suggest and to undertake the surgical path, also due to the lack of safe and consolidated non-surgical treatments for the specific case.
PubMed: 29299192
DOI: 10.11138/ads/2017.8.2.045 -
American Journal of Medical Genetics Dec 1991Hallermann-Streiff syndrome (HSS) is a rare disorder with an associated constellation of radiological findings that may aid in the diagnosis of affected individuals. We... (Review)
Review
Hallermann-Streiff syndrome (HSS) is a rare disorder with an associated constellation of radiological findings that may aid in the diagnosis of affected individuals. We reviewed the skeletal surveys of 5 affected individuals and noted some characteristic and constant findings. Radiological findings can include a large, poorly ossified skull with decreased ossification in the sutural areas. There was an increase in the number of Wormian bones. Severe mid-facial hypoplasia was present along with a prominent nasal bone. The skull films also showed an abnormally obtuse or nearly straight gonial angle. The teeth appeared small. The long bones were thin and gracile in appearance and often showed poor demarcation of the cortex from the medullary portion. Abnormal bowing of the radius and ulna was seen neonatally in 2 cases. There was widening at the metaphyseal ends of the long bones. The ribs were thin, but normal in length. The vertebral bodies were noted to be small and 3 cases had platyspondyly. There was a decreased number of sternal ossification enters. The metacarpals were also thin and gracile in appearance with metaphyseal widening. We conclude that these characteristic radiological findings in the newborn with HSS can aid in the diagnosis, and a skeletal survey in suspected individuals may be valuable in confirming the diagnosis.
Topics: Adolescent; Child, Preschool; Diagnosis, Differential; Female; Hallermann's Syndrome; Humans; Infant, Newborn; Male; Mandible; Radiography; Skull; Tooth Abnormalities
PubMed: 1776646
DOI: 10.1002/ajmg.1320410426 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... Aug 2022Management of unstable tibial fractures (UTF) can be challenging due to widening of the proximal and distal metaphyseal zone, soft tissue problems, and poor vascularity....
BACKGROUND
Management of unstable tibial fractures (UTF) can be challenging due to widening of the proximal and distal metaphyseal zone, soft tissue problems, and poor vascularity. We aimed to compare the effect of novel tibial orthopedic reduction support (TORS) frame constructed by re-used tubular external fixator systems and manual traction with regard to the quality of re-duction, and fracture healing.
METHODS
A total of 65 patients who were admitted with UTF and underwent intramedullary nailing were assessed; 43 patients un-derwent manual traction technique, and 22 patients underwent TORS technique. The sagittal and coronal plane angulations were eval-uated in initial postoperative radiographs, and radiologic union scores for tibial fractures (RUST) were compared at follow-up X-rays.
RESULTS
The mean age of patients was 43.49±19.09 years in the manual-traction group and 43.41±16.8 years in the TORS group. The mean coronal plane angulation was 1.84±3.16 in the manual traction group and 1.86±4.21 in the TORS group. The mean sagittal plane angulation was 1.19±1.93 in manual traction group and 0.32±0.65 in the TORS group. The number of coronal and sagittal plane angulations >5° was higher in manual traction group than TORS group. The mean RUST was significantly higher in the TORS group than in the manual traction group at 6th, 9th, and 12th-month controls. The union rates were also higher in the TORS group at 9th and 12th-month controls.
CONCLUSION
TORS frame is a simple and cheap technique and should be considered as reduction support in the management of UTF by intramedullary nailing.
Topics: Adult; Bone Nails; Fracture Fixation, Intramedullary; Fracture Healing; Humans; Middle Aged; Retrospective Studies; Tibial Fractures; Treatment Outcome; Young Adult
PubMed: 35920423
DOI: 10.14744/tjtes.2021.47225 -
American Journal of Medical Genetics.... Sep 2005The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal...
The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the long bones. It results from autosomal dominant mutations of COL10A1, the gene which encodes alpha1(X) chains of type X collagen. We report the clinical and radiographic findings in 10 patients with MCDS and COL10A1 mutations. Six patients had lower limb deformities, which necessitated orthopedic surgeries in all of them. One patient demonstrated no deformities and normal stature at age 11 years (height -1.2 SDS) while the others manifested severe short stature (<-3.5 SDS). Radiographs showed metaphyseal changes which were most pronounced at the hips and knees. Five of the identified 10 mutations in COL10A1 were novel. Six mutations resulted in truncation of the NC1 domain while four mutations were single amino-acid substitutions. Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought.
Topics: Adolescent; Adult; Bone and Bones; Child; Child, Preschool; Collagen Type X; DNA Mutational Analysis; Female; Humans; Limb Deformities, Congenital; Male; Mutation; Osteochondrodysplasias; Radiography
PubMed: 16088909
DOI: 10.1002/ajmg.a.30855 -
Journal of Pediatric Orthopedics 2003Records and 2,634 pairs of radiographs (anteroposterior and lateral) of 610 patients with Perthes disease were reviewed. The evolution of the disease was divided into...
Records and 2,634 pairs of radiographs (anteroposterior and lateral) of 610 patients with Perthes disease were reviewed. The evolution of the disease was divided into seven stages (stages Ia, Ib, IIa, IIb, IIIa, IIIb, and IV) based on plain radiographic appearances. Intraobserver and interobserver reproducibility of this new classification system was assessed. The duration of each stage of the disease was noted. The stages at which epiphyseal extrusion and widening of the metaphysis occurred and the stages at which metaphyseal and acetabular changes appeared were identified. The shape and the size of the femoral head, the extent of trochanteric overgrowth, and the radius of the acetabulum were assessed in hips that had healed. The new classification system of the evolution of Perthes disease was reproducible and helped to identify when crucial events occur during the course of the disease. The median duration of each stage varied between 95 and 335 days. Epiphyseal extrusion and metaphyseal widening was modest in stages Ia, Ib, and IIa but increased dramatically after stage IIb. More than 20% extrusion occurred in 70% of the hips by stage IIIa. Metaphyseal changes were most frequently encountered in stage IIb, while acetabular changes were most prevalent in stage IIIa. At healing, only 24% of untreated patients had spherical femoral heads, while 52% had irregular femoral heads. The timing of epiphyseal extrusion, metaphyseal widening, and the appearance of adverse metaphyseal and acetabular changes suggest that femoral head deformation occurs by stage IIIa in untreated hips. Hence, if containment were to succeed, it should be achieved before this stage.
Topics: Age of Onset; Child; Disease Progression; Female; Humans; Legg-Calve-Perthes Disease; Male; Observer Variation; Radiography
PubMed: 12960621
DOI: 10.1097/00004694-200309000-00005 -
Pediatric Radiology 1995Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this...
Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature.
Topics: Bone Marrow; Child; Child, Preschool; Dysostoses; Exocrine Pancreatic Insufficiency; Female; Humans; Infant; Male; Radiography; Ultrasonography
PubMed: 7567241
DOI: 10.1007/BF02011104 -
Radiology May 1985We reviewed the radiographs of six patients with pseudohypoparathyroidism (PHP) manifested by variable renal and skeletal resistance to parathyroid hormone (PTH)....
We reviewed the radiographs of six patients with pseudohypoparathyroidism (PHP) manifested by variable renal and skeletal resistance to parathyroid hormone (PTH). Features compatible with hyperparathyroid bone disease, osteomalacia, and rickets were observed. Skeletal changes of hyperparathyroidism included (a) subperiosteal bone resorption, (b) radiolucent lesions, caused by either brown tumors or bone cysts, (c) slipped capital femoral epiphyses, (d) focal areas of osteosclerosis, (e) periosteal neostosis, and (f) osteopenia with reduced cortical and trabecular bone volume. Histologic bone features were compatible with osteitis fibrosa in all patients, which suggests that the skeleton responded to the bone-remodeling effects of PTH despite hormonal resistance at other target sites. Skeletal changes of rickets included metaphyseal irregularities, cupping, and widening of the growth plates. Osteomalacia was indicated by Looser zones in one patient and confirmed by histologic evidence in three patients.
Topics: Adolescent; Bone Diseases, Metabolic; Bone and Bones; Child; Child, Preschool; Female; Humans; Male; Osteitis Fibrosa Cystica; Osteomalacia; Pseudohypoparathyroidism; Radiography
PubMed: 3983385
DOI: 10.1148/radiology.155.2.3983385 -
BDJ Open Sep 2022Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone...
INTRODUCTION
Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD.
METHODS
The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth.
RESULTS
The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state.
CONCLUSION
This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD.
PubMed: 36138002
DOI: 10.1038/s41405-022-00120-w