A study of growing cartilage confirms that this disease is a distinct entity as there is fibrosis of the cartilage which is never present in thanatophoric dwarfism or in the different forms of achondrogenesis. [ncbi.nlm.nih.gov]

ORPHA:2021 Synonym(s): - Prevalence: Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Neonatal ICD-10: Q77.7 OMIM: 228520 614524 UMLS: C0265282 MeSH: - GARD: 2321 MedDRA: - The documents contained in this web site are presented for [orpha.net]

Collagen type I was present in remaining SIS and extracellular matrix associated with infiltrated cells. [doi.org]

• Hunting

  Hunt NC, Vujanić GM. Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. Am J Med Genet. 1998;75(3):326-9. Hunt, N. C., & Vujanić, G. M. (1998). Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. [unboundmedicine.com]

  All other cases were sporadic andin non-consanguineous families [Eteson et al., 1984;Whitley et al., 1984; Bankier et al., 1991; Martinez-Fraset al., 1996; Hunt and Vujanic, 1998]. [docslide.com.br]

  Hunt NC, Vujanic GM. Fibrochondrogenesis in a 17 week fetus: a case expanding the phenotype. Am J Med Genet 1998; 75: 326–329. CrossRef PubMed Google Scholar 13. Stanecu V, Stanescu R, Pathogenic mechanisms in osteochondrodysplasias. [dx.doi.org]

• Multiple Congenital Anomalies

  Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). [doi.org]

• Platyspondyly

  A lateral radiograph of the spine revealed severe pear-shaped platyspondyly, with increased intervertebral disk spaces [ Figure 7 ]. [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 affected infants.Fibrochondrogenesis alters the normal function of chondrocytes [en.wikipedia.org]

  We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal ultrasound and postnatal radiographic findings. [ingentaconnect.com]

  Note generalized platyspondyly, narrow thorax with short ribs,markedly deficient ossification of the skull bones, hypoplastic pelvis withdistally irregular border of ilia, and short long tubular bones with broadmetaphyseal areas.Fig. 3. [docslide.com.br]

• Macrocephaly

  […] which form cartilage); and flared, widened long bone metaphyses (the portion of bone that grows during childhood).Other prominent features include dwarfism, shortened ribs that have a concave appearance, micrognathism (severely underdeveloped jaw), macrocephaly [en.wikipedia.org]

  Other prominent features include dwarfism, shortened ribs that have a concave appearance, micrognathism (severely underdeveloped jaw ), macrocephaly (enlarged head), thoracic hypoplasia (underdeveloped chest), enlarged stomach, (flattened spine ), and [wiki30.com]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 30%-79% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 [rarediseases.info.nih.gov]

• Small Palpebral Fissures

  Small palpebral fissures with anti-mongoloid obliquity, low-set abnormally formed ears, small mouth, cleft palate, and hypertelorism are seen. [ncbi.nlm.nih.gov]

• Normal Hearing

  The carriers of these mutations display ocular defects with normal hearing. [ncbi.nlm.nih.gov]

• Round Face

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Short ribs 0000773 Short stature Decreased body height Small stature [ more ] 0004322 Wide anterior fontanel Wider-than-typical [rarediseases.info.nih.gov]

• Large Anterior Fontanels

  The skull is relatively large with large anterior fontanelle and hypoplastic facial bones. The clavicles are long and thin and the scapulae are small. Ribs are short and wide, cupped both anteriorly and posteriorly. [ncbi.nlm.nih.gov]

• Short Neck

  neck Decreased length of neck 0000470 Short ribs 0000773 Short stature Decreased body height Small stature [ more ] 0004322 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 30%-79% of people have these symptoms Anteverted nares Nasal [rarediseases.info.nih.gov]

• Excitement

  Telephone: 713‐348‐6385; Fax: 713‐348‐5877 Search for more papers by this author First published: 02 January 2009 Cited by: 32 Abstract Human embryonic stem cells (hESCs) are an exciting cell source for fibrocartilage engineering. [dx.doi.org]

  Aside from the excitement of performing novel research, I enjoy mentoring at all levels of education (from high school to post-doctoral). [sites.ophth.wisc.edu]

Changes in surface markers (CD105, CD44, SSEA, PDGFRα) after the differentiation treatments were also analyzed. [doi.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

To induce a synovial fibrocartilage phenotypic shift, synovial membrane cells were then cultured on a copolymer of 10% poly-L-lactic acid and 90% poly-glycolic acid and exposed to various growth factor treatments. [mospace.umsystem.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Some controversy still persists with regard to the terminology of chordomas and chondroid variants of chordomas, but this likely has no real clinical relevance with regard to medical decision making or prognosis. [radiologykey.com]

In conventional osteosarcoma, the authors give less emphasis on the detailed histopathologic subclasses and indicate that currently, there is no evidence of any relationship between these subtype and prognosis. [sarcomahelp.org]

Elsevier Health Sciences, ١٨‏/٠٨‏/٢٠١٣ - 979 من الصفحات Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.com]

Kaplan, Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_19, (335-348), (2010). Luís F. [dx.doi.org]

Epidemiology Fibrochondrogenesis is quite rare. A 1996 study from Spain determined a national minimal prevalence for the disorder at 8 cases out of 1,158,067 live births. [wiki30.com]

Benli IT et al (1992) Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 74:504–506 PubMed Google Scholar 5. [link.springer.com]

Athanasiou, The knee meniscus: Structure–function, pathophysiology, current repair techniques, and prospects for regeneration, Biomaterials, 10.1016/j.biomaterials.2011.06.037, 32, 30, (7411-7431), (2011). V.P. Willard, L. Zhang and K.A. [dx.doi.org]

Pathophysiology and treatment. Clin Orthop Relat Res 294:64–78 PubMed Google Scholar 41. Karakida K et al (2010) Multiple giant cell tumors in maxilla and skull complicating Paget’s disease of bone. [link.springer.com]

PGA scaffolds were then coated with 2% and 4% PLLA, however, the PLLA coating resulted in severely clumped cellular distribution, and did not prevent rapid dissolution of the PGA scaffolds. [mospace.umsystem.edu]

Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. [ghr.nlm.nih.gov]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]