Platyspondyly: Causes & Reasons

Possible Causes for Platyspondyly

Individuals with SMDK have platyspondyly, overfaced vertebral pedicles, irregular proximal femoral growth plates, and carpal ossification delay [ 21 ]. [omicsonline.org]

Plain radiograph / CT Axial manifestations platyspondyly hypoplasia of odontoid peg atlantoaxial subluxation os odontoideum anterior central vertebral body beaking round vertebral [radiopaedia.org]

There are multiple abnormalities of the spine (platyspondyly, odontoid hypoplasia, cervical subluxation and cervical myelopathy). [medicinenet.com]

Mucopolysaccharidosis Type 4A

Characteristic findings included hypoplasia of odontoid peg, universal platyspondyly, gibbus and kyphosis of the dorsal region with widening of disk spaces. [cjhr.org]

Clinical manifestations include: Platyspondyly of vertebrae. Dysplasia of the long bones. Atlanto-occipital instability. Genu valgum. Gait abnormalities. [patient.info]

Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows. [orpha.net]

Mucopolysaccharidosis

[…] skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly [ncbi.nlm.nih.gov]

The most common bony changes were hypo/dysplastic odontoid; cervical platyspondyly with anterior inferior beaking; thoracic posterior end plate depressions and lumbar posterior [ncbi.nlm.nih.gov]

Characteristic findings included hypoplasia of odontoid peg, universal platyspondyly gibbus, and kyphosis of the dorsal region with widening of disc spaces. [sajr.org.za]

Cartilage Hair Hypoplasia

[…] metaphyseal flare and irregularity eleven ribs, moderately short Flared and irregular metaphyses of multiple long bones are also associated with these dysplasias, as well as mild platyspondyly [radiopaedia.org]

 Generalised severe platyspondyly  Increased intervertebral disc height  Open staircase vertebrae  Kyphosis/ scoliosis  Widening sclerosis irregularity of tubular bones [slideshare.net]

Non-Syndromic Ocular Stickler Syndrome Type 1

Radiological examination revealed moderate platyspondyly. [hindawi.com]

Thoracic kyphosis +++ - - - Pateint II 5 Phenotypic characterization Cleft palate Myopia & astigmatism Hypermobile tympanic membrane Platyspondyly Thoracic kyphosis +++ - [medsci.org]

SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. [abcam.com]

Severe Short Stature

We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. [ncbi.nlm.nih.gov]

Platyspondyly with cervical kyphosis, but no coronal clefts, and bowing of the long bones are distinctive radiographic findings. [ncbi.nlm.nih.gov]

Radiographic testing indicated that she had a large sella turcica, platyspondyly, hypoplastic acetabulum, and a small body of mandible. [ncbi.nlm.nih.gov]

Spondyloepiphyseal Dysplasia Congenita

Both these patients had short stature, os odontoideum with or without atlantoaxial instability, platyspondyly, and epiphyseal dysplasia limited to the femoral heads. [ncbi.nlm.nih.gov]

Vertebrae showed platyspondyly in five patients and anterior beaking in three patients. [ijri.org]

[…] involves the spine and proximal epiphyseal centers. short neck short trunk with protruding abdomen normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly [radiopaedia.org]

Enchondromatosis

His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. [ncbi.nlm.nih.gov]

Radiographically there are multiple enchondromata in almost all metaphyses of the long and short tubular bones and the lesions are in almost the same stage of development with mild platyspondyly [ncbi.nlm.nih.gov]

Generalized enchondromatosis with mild platyspondyly. [ncbi.nlm.nih.gov]

Congenital Scoliosis due to Bony Malformation

Diseases related with Scoliosis and Platyspondyly In the following list you will find some of the most common rare diseases related to Scoliosis and Platyspondyly that can [mendelian.co]

Their radiological findings are compatible with brachyolmia, Hobaek type, which is characterized by platyspondyly, horizontal acetabular roof, short femoral neck, and vertical [ncbi.nlm.nih.gov]

Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones [ncbi.nlm.nih.gov]

Platyspondyly

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. [keio.pure.elsevier.com]

His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. [ncbi.nlm.nih.gov]

[1] platyspondyly (platyspondylisis) [anvita.info]

Dyggve-Melchior-Clausen Syndrome

Radiological features include progressive flattened vertebral bodies (platyspondyly) with a double-humped shape clearly visible by 3-4 years of age, misaligned spine, metaphyseal [orpha.net]

The radiographic features seen in the 15 patients described in this report include platyspondyly with notched end plates of the vertebral bodies, small ilia with broad, frequently [ncbi.nlm.nih.gov]

The radiographic appearance of generalized platyspondyly with double-humped end-plates, and the lace-like appearance of iliac crests are pathognomonic and distinctive of these [ncbi.nlm.nih.gov]

Pseudoachondroplasia

(b) Radiograph (Lateral view) of Lumbosacral spine (in younger child) showing platyspondyly 28.  in spine platyspondyly, flame- shaped vertebrae with anterior projections [slideshare.net]

The spine revealed mild platyspondyly [Figure 3]. [ijoonline.com]

By adolescence, most of these characteristic vertebral changes disappear and only mild platyspondyly persists. [musculoskeletalkey.com]

Parastremmatic Dwarfism

(Ollier disease, OMIM 166000) and his father had moderate platyspondyly only, it was suggested that platyspondyly could represent (1) a manifestation of the carrier state [rrnursingschool.biz]

Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral [malacards.org]

Clinical description Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. [orpha.net]

Osteoglophonic Dwarfism

[…] documented in this report of a 2-year-old boy with a very rare skeletal dysplasia known as osteoglophonic dysplasia, characterized by multiple and recurrent craniosynostoses, platyspondyly [semanticscholar.org]

The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. [link.springer.com]

The main radiographic features include: craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. [iofbonehealth.org]

Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

Radiologic abnormalities of the patients comprised generalized platyspondyly, a hump-shaped deformity of cervical, thoracal, and lumbar vertebral bodies as well as signs of [ncbi.nlm.nih.gov]

Radiological findings include mild platyspondyly, vertebral end plate irregularity, irregular femoral necks, and dysplasia of the capital femoral epiphyses with flattening [ncbi.nlm.nih.gov]

Vertebrae showed platyspondyly in five patients and anterior beaking in three patients. [ijri.org]

Prata-Libéral-Gonçalves Syndrome

Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long [mendelian.co]

Microcephaly Brachydactyly, Type E + Brachydactyly-Nystagmus-Cerebellar Ataxia brachydactyly-preaxial hallux varus syndrome brachydactyly-syndactyly syndrome Chondrodysplasia with Platyspondyly [rgd.mcw.edu]

Plasmalogenes synthesis deficiency isolated Plasminogen activitor inhibitor type 1 deficiency, congenital Plasminogen deficiency, congenital Platyspondylic lethal chondrodysplasia Platyspondyly [mindmappedia.com]

Fibrochondrogenesis

Severe platyspondyly with increased intervertebral disk spaces noted involving the entire vertebral column. [ncbi.nlm.nih.gov]

The cause of platyspondyly in fibrochondrogenesis can be attributed in part to odd malformations and structural flaws found in the vertebral bodies of the spinal column in [en.wikipedia.org]

A lateral radiograph of the spine revealed severe pear-shaped platyspondyly, with increased intervertebral disk spaces [ Figure 7 ]. [ncbi.nlm.nih.gov]

Kniest Dysplasia

Generalized platyspondyly with anterior wedging of the vertebral bodies in the lower thoracic and upper lumbar spine is a major feature. [musculoskeletalkey.com]

A radiological evaluation will also reveal vertebral abnormalities like platyspondyly or more severe malformations. [symptoma.com]

Fetal 3D-CT revealed dumbbell-shaped femora and platyspondyly with coronal cleft of the lumbar vertebral body. [ncbi.nlm.nih.gov]

Pyle's Disease

Radiographic findings in the spine varied from moderate platyspondyly to the bodies having the appearance of a biconcave lens. [ncbi.nlm.nih.gov]

[…] anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly [orpha.net]

[…] of the bone and flaring of the metaphysis or end of the bone ( Erlenmeyer flask deformity ), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly [rarediseases.info.nih.gov]

Schwartz-Jampel Syndrome

Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly [ncbi.nlm.nih.gov]

Multilevel, cervicothoracic platyspondyly is readily apparent. B, T2-weighted MR image. Download figure Open in new tab Download powerpoint Fig 2. [ajnr.org]

Bone abnormalities include kyphoscoliosis, platyspondyly with resulting dwarfism or diminished stature and a short neck, coxa valga, irregularities of the capital femoral [ajnr.org]

Spondyloenchondrodysplasia

To our knowledge, marked generalized platyspondyly has not been described in the literature as part of this condition. [ncbi.nlm.nih.gov]

Spondyloenchondrodysplasia is a very rare skeletal dysplasia in which multiple enchondromata exist in the metaphyses of the long bones with platyspondyly. [ncbi.nlm.nih.gov]

Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. [ncbi.nlm.nih.gov]

Progressive Pseudorheumatoid Dysplasia

Magnetic resonance imaging of thoracolumbar spine demonstrated irregularity in vertebral end-plates, multiple disk herniations, and platyspondyly (Figure 5). [archivesofrheumatology.org]

It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

The main clinical features are arthralgia, jointcontractures, enlarged metacarpophalangeal and interphalan-geal joints, platyspondyly and short stature. [myslide.es]

X-Linked Spondyloepimetaphyseal Dysplasia

Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular [malacards.org]

There is moderate platyspondyly. Several vertebrae show an anterior tongue in infancy and severe irregularities of the upper and lower surfaces are present in adulthood. [ncbi.nlm.nih.gov]

Vertebrae showed platyspondyly in five patients and anterior beaking in three patients. [ijri.org]

Spondyloperipheral Dysplasia

(Ollier disease, OMIM 166000) and his father had moderate platyspondyly only, it was suggested that platyspondyly could represent (1) a manifestation of the carrier state [rrnursingschool.biz]

This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) [malacards.org]

We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end-plate indentations [ncbi.nlm.nih.gov]

Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

(Ollier disease, OMIM 166000) and his father had moderate platyspondyly only, it was suggested that platyspondyly could represent (1) a manifestation of the carrier state [rrnursingschool.biz]

Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations [ncbi.nlm.nih.gov]

[…] femoral epiphyses Hypoplastic epiphyses Irregular metaphyses Kyphoscoliosis Limited elbow extension Lumbar lordosis, increased Metaphyseal striations Mild mesomelia Osteopenia Platyspondyly [datagenno.com]

Spondyloepimetaphyseal Dysplasia Type Strudwick

[…] mainly involving the spine and proximal epiphyses. short neck short trunk with protruding abdomen normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly [radiopaedia.org]

Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the [ghr.nlm.nih.gov]

Hypoplastic pubic bone ; Inguinal hernia ; Metaphyseal dappling ; Metaphyseal irregularity ; Myopia ; Narrow greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly [mousephenotype.org]

Spondylometaphyseal Dysplasia Type Kozlowski

There was generalised platyspondyly, evident on the anterio-posterior views (Fig. 1c). Unfortunately no lateral view was available. Case 2 Baby A.K. [updoc.site]

SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous [malacards.org]

[…] fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly [mendelian.org]

Spondyloepiphyseal Dysplasia Type Cantú

[…] shortening short long bones limited supination limited pronation Skeletal Feet: brachydactyly short feet brachymetatarsals Skeletal Spine: cuboid-shaped vertebral bodies mild platyspondyly [malacards.org]

Radiological Manifestations Patient 1 Pa tien t 2 Pa tien t 3 Spine Generalized platyspondyly Irregular articular surfaces Wide costochondral junctions Hy p oplasia Wide and [docslide.com.br]

There is moderate platyspondyly. Several vertebrae show an anterior tongue in infancy and severe irregularities of the upper and lower surfaces are present in adulthood. [ncbi.nlm.nih.gov]

Ulna Metaphyseal Dysplasia Syndrome

Spine and Pelvis Platyspondyly 9. [slideshare.net]

Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.Visit the Orphanet disease page for more resources. [malacards.org]

It has varied vertebral involvement which varies from moderate platyspondyly to biconcave lens appearance of the vertebra. [3] Spondylo-metaphyseal dysplasia is also known [mjdrdypu.org]

Schneckenbecken Dysplasia

It is generally non-lethal, and is characterized by severe delay in skeletal ossification, short limbs, small hands and feet, severe platyspondyly with hypoplastic vertebral [ctgt.net]

Hypoplastic scapulae Lateral clavicle hook Macrocephaly Malar flattening Metaphyseal irregularity Narrow chest Narrow vertebral interpedicular distance Ovoid vertebral bodies Platyspondyly [ncbi.nlm.nih.gov]

Radiographs showed typical findings of Schneckenbecken dysplasia, including platyspondyly with oval-shaped vertebral bodies, extremely short long bones with dumbbell-like [gepedia.com]