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Atelosteogenesis Type 2

Diastrophic Dysplasia


Presentation

  • Discussion In the present study, the evaluated fetus had clinical findings compatible with both AO2 and severe DTD.[file.scirp.org]
  • We present a case with findings of prenatal ultrasound, autopsy and cytogenetic work up with report of a novel familial mutation. Case Reports in Perinatal Medicine de Gruyter[deepdyve.com]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • Presents ultrasound video ciips as they would appear in practice on the bonus DVD.[books.google.com]
  • Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.[checkorphan.org]
Small Teeth
  • Approximately one third of infants and children with diastrophic dysplasia also have dental abnormalities, such as abnormally small teeth and dental crowding.[rarediseases.org]
Ectopia Lentis
  • lentis Isolated polycystic liver disease KBG syndrome Legius syndrome Lethal congenital contracture syndrome type 3 Li-Fraumeni syndrome Limited cutaneous systemic sclerosis MELAS syndrome Mantle cell lymphoma Marfan syndrome type 1 Maternally-inherited[csbg.cnb.csic.es]
Leontiasis
  • […] dysplasia (disorder) Kniest-Stickler dysplasia group Kniest-Stickler dysplasia group (disorder) Kyphomelic dysplasia Kyphomelic dysplasia (disorder) Lenz-Majewski dysplasia Lenz-Majewski hyperostosis syndrome Lenz-Majewski hyperostosis syndrome (disorder) Leontiasis[averbis.com]
High, Prominent Forehead
  • Some infants with diastrophic dysplasia also have characteristic malformations of the head and facial (craniofacial) area, such as an unusually high, prominent forehead; abnormal smallness of the jaws (micrognathia); and/or a broad, highly arched roof[rarediseases.org]
Nasal Speech
  • However, in many cases nasal speech (hyponasality) occurs as a result of the abnormally shaped vocal tract.[rarediseases.org]
Urinary Incontinence
  • The team consists of representatives from the following specialisms: respiratory physiology, neurosurgery, neuroradiology, skeletal radiology, paediatric orthopaedics, paediatric endocrinology, physiotherapy, urinary incontinence therapy and clinical[socialstyrelsen.se]

Workup

  • […] narrow the differential diagnosis of skeletal dysplasias so that appropriate confirmatory molecular tests can be selected, (2) to predict lethality; and (3) to identify the fetus with a skeletal dysplasia early enough in pregnancy so that the diagnostic workup[radiologykey.com]

Treatment

  • 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]
  • MANAGEMENT: Treatment of manifestations: Palliative care for liveborns. GENETIC COUNSELING: AO2 is inherited in an autosomal recessive manner.[ncbi.nlm.nih.gov]
  • Treatment - Atelosteogenesis type 2 Not supplied. Resources - Atelosteogenesis type 2[checkorphan.org]
  • Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies.[books.google.com]
  • Skeletal dysplasias are a complicated group of disorders as regards diagnosis and treatment. As treatment regimes, patterns of inheritance, and prognoses differ, it is essential to establish a correct diagnosis.[socialstyrelsen.se]

Prognosis

  • Prognosis - Atelosteogenesis type 2 Not supplied. Treatment - Atelosteogenesis type 2 Not supplied. Resources - Atelosteogenesis type 2[checkorphan.org]
  • Prognosis Prognosis is poor. Death is often due to a combination of pulmonary hypoplasia and tracheobronchomalacia early in life. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Spondylo-humero-femoral dysplasia Autosomal dominant pattern is the inheritance manner of this condition Specialty Medical genetics Atelosteogenesis type I is a rare autosomal dominant condition. [1] This condition is evident at birth and is associated with a very poor prognosis[en.wikipedia.org]
  • H4R3me2a negotiated by nuclear systems damaged synthesis of the hotspot H4 prognosis( Huang et al.[evakoch.com]
  • Prognosis for Short Stature or Dwarfism The condition of short stature or dwarfism is nowhere close to being controlled.[epainassist.com]

Etiology

  • 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]
  • Etiology Atelosteogenesis I results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B ( FLNB ) located to 3p14.[orpha.net]
  • The etiology of cleft lip and palate (CLP) or cleft palate (CP) is believed to be multifactorial.[oralmaxillo-facialsurgery.blogspot.com]
  • Structure # 9 Katelynn Toomer, Kimberly Sauls, Diana Fulmer, Lilong Guo, Kelsey Moore, Janiece Glover, Rebecca Stairley, Joyce Bischoff, Robert A Levine, Russell A Norris Mitral valve prolapse (MVP) affects 2.4% of the population and has poorly understood etiology[read.qxmd.com]
  • The present case report reveals the importance of the prenatal evaluation of the fetus, of the assessment of the family history, and of the role of NGS and selected panels for the etiological confirmation of the disease.[scielo.br]

Epidemiology

  • ., Castilla, E.E. and Cavalcanti, D.P. (2012) Clinical Epidemiology of Skeletal Dysplasias in South America.[scirp.org]
  • Summary Epidemiology AOI is a very rare infrequently described disorder.[orpha.net]
  • ., Castilla, E.E. and Cavalcanti, D.P. (2012) Clinical Epidemiology of Skeletal Dysplasias in South America. American Journal of Medical Genetics Part A, 158A, 1038-1045.[file.scirp.org]
  • You can help by adding to it . ( December 2017 ) Epidemiology [ edit ] The frequency of this disorder is unknown, but it is very rare. Only a few families with the condition have been reported.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Dwarfs: pathophysiology and anesthetic implications. Anesthesiology 1990; 73: 739-759. Dwyer E, Hyland J, Modaff P, Pauli RM.[socialstyrelsen.se]
  • Pathophysiology [ edit ] Mutations in the COL11A2 gene cause otospondylomegaepiphyseal dysplasia. The protein made by the COL11A2 gene is involved in the production of type XI collagen .[en.wikipedia.org]
  • Pathophysiology Skeletal dysplasias differ in natural histories, prognoses, inheritance patterns, and etiopathogenetic mechanisms.[thehealthscience.com]
  • Attila Aszódi, Integrin-Mediated Interactions in Cartilage Physiology and Pathophysiology, Cartilage, 10.1007/978-3-319-45803-8_8, (155-189), (2017).[doi.org]

Prevention

  • Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis type 2. Prevention - Atelosteogenesis type 2 Not supplied.[checkorphan.org]
  • Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.[ipfs.io]
  • This gene is crucial for the normal development of cartilage and for its conversion to bones, otherwise the mutations in the SLC26A2 gene can disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal[onlymyhealth.com]
  • When mutation occurs in the gene, it hinders the growth and disrupts the structure of developing cartilage, preventing the bones from forming properly. Image courtesy: Getty Images Read more articles on Atelosteogenesis type 2.[onlymyhealth.com]

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