Cartilage Biopsy Abnormal & Severely Disproportionate Short Stature & Skeletal Dysplasia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Cartilage Biopsy Abnormal, Severely Disproportionate Short Stature, Skeletal Dysplasia,

Negated

None

Unsure

None

Possible Causes

Chondrodystrophy

DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL [doi.org]

Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature. [doi.org]

It’s distinguished by a moderate to severe form of disproportionate short-limb short stature. [en.wikipedia.org]

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Schmid Metaphyseal Chondrodysplasia

We reviewed the radiographs of Schmid MCD patients at the International Skeletal Dysplasia Registry in Los Angeles for evidence of hand involvement. [ncbi.nlm.nih.gov]

The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly [intechopen.com]

A sitting height of 2 S.D. and sub-ischial leg length 4 S.D. was suspicious of skeletal dysplasia, supported by a skeletal survey demonstrating metaphysal widening, coxa varum [endocrine-abstracts.org]

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Cartilage Hair Hypoplasia

Biopsy shows hypoplasia (underdevelopment) of cartilage to be the nature of the skeletal abnormality. The hair is unusually fine, sparse and light-colored. [medicinenet.com]

Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal [ncbi.nlm.nih.gov]

Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence [ncbi.nlm.nih.gov]

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Leri-Weill Dyschondrosteosis

CONTEXT: Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. [ncbi.nlm.nih.gov]

Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic [ncbi.nlm.nih.gov]

Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the [ncbi.nlm.nih.gov]

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Ellis-Van Creveld Syndrome

Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT. [ncbi.nlm.nih.gov]

The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia [jbsr.be]

Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. [ncbi.nlm.nih.gov]

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Coxa Vara

[…] have been found in biopsy of the femoral necks Width of the growth plate Absence of normal orderly progression of cartilage columns, similar to appearance of Blounts disease [orthopaedicsone.com]

Abstract Coxa vara can be a progressive deformity in children with skeletal dysplasia. [ncbi.nlm.nih.gov]

There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. [ncbi.nlm.nih.gov]

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Kniest Dysplasia

If the diagnosis remains unclear, a bone or cartilage biopsy is in order. [symptoma.com]

The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias. [books.google.ro]

There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery. [jmg.bmj.com]

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Multiple Epiphyseal Dysplasia

Hunziker, Mats Paulsson, Raimund Wagener and Attila Aszodi, Abnormal Collagen Fibrils in Cartilage of Matrilin-1/Matrilin-3-deficient Mice, Journal of Biological Chemistry [doi.org]

KEYWORDS: SLC26A2; club foot; diastrophic dysplasia; double-layered patella; rMED; skeletal dysplasia [ncbi.nlm.nih.gov]

Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature. [doi.org]

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Chondrodysplasia Punctata

The presence of physical deformities at birth indicates RCDP, and x-rays and other imaging tests will show abnormalities in bones and cartilage development. [disability-benefits-help.org]

Chondrodysplasia punctata (CDP) is a rare skeletal dysplasia characterized by stippled epiphyses during infancy. [ncbi.nlm.nih.gov]

Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities [dnatesting.uchicago.edu]

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Saldino-Noonan Syndrome

[…] autopsy bilateral biopsy blastoma bron bronchial bronchogenic cyst bronchopulmonary dysplasia bronchus carcinoma cartilage cells chest cilia cleft clinical congenital diaphragmatic [books.google.com]

INTRODUCTION: short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. [lookfordiagnosis.com]

dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. [kjp.or.kr]

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Ulna Metaphyseal Dysplasia Syndrome

From the histopathological examination of serial bone biopsies carried out in patient 1, we postulate that the normal coupling of hypertrophic cartilage resorption with vascular [academic.oup.com]

Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common non-lethal skeletal dysplasia. [patient.info]

[…] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear [flinders.edu.au]

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Rhizomelic Chondrodysplasia Punctata

The presence of physical deformities at birth indicates RCDP, and x-rays and other imaging tests will show abnormalities in bones and cartilage development. [disability-benefits-help.org]

Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly being identified. [ncbi.nlm.nih.gov]

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