Atelosteogenesis type I explained

Atelosteogenesis type I
Synonyms:Spondylo-humero-femoral dysplasia
Field: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 for the baby. It may be diagnosed antenatally.

Signs and symptoms

Clinical features include[2]

Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia.[3]

Causes

This condition is caused by mutations in the filamin B (FLNB) gene.[4] [5] [6]

Diagnosis

This condition is evident at birth and may be diagnosed antenatally with ultrasound or magnetic resonance imaging. The infants may be still born. Those that are live born do not survive long.[7]

Radiological findings include[8]

Differential diagnosis

This includes[9]

History

This condition was first described by Maroteaux et al. in 1982.[10]

Notes and References

  1. Sillence . D. . Worthington . S. . Dixon . J. . Osborn . R. . Kozlowski . K. . Atelosteogenesis syndromes: a review, with comments on their pathogenesis . Pediatric Radiology . Springer Science and Business Media LLC . 27 . 5 . 1997-05-13 . 0301-0449 . 10.1007/s002470050154 . 388–396. 9133349 .
  2. Temple . K . Hall . C A . Chitty . L . Baraitser . M . A case of atelosteogenesis. . Journal of Medical Genetics . BMJ . 27 . 3 . 1990-03-01 . 1468-6244 . 10.1136/jmg.27.3.194 . 194–197. 2325095 . 1017004 .
  3. Wessels . Annasu . Wainwright . Helen C. . Beighton . Peter . Atelosteogenesis Type I: Autopsy Findings . Pediatric and Developmental Pathology . SAGE Publications . 14 . 6 . 2011 . 1093-5266 . 10.2350/11-01-0969-cr.1 . 496–500. 21985323 .
  4. Farrington-Rock . Claire . Firestein . Marc H. . Bicknell . Louise S. . Superti-Furga . Andrea . Bacino . Carlos A. . Cormier-Daire . Valerie . Le Merrer . Martine . Baumann . Clarisse . Roume . Joelle . Rump . Patrick . Verheij . Joke B.G.M. . Sweeney . Elizabeth . Rimoin . David L. . Lachman . Ralph S. . Robertson . Stephen P. . Cohn . Daniel H. . Krakow . Deborah . Mutations in two regions ofFLNBresult in atelosteogenesis I and III . Human Mutation . Hindawi Limited . 27 . 7 . 2006 . 1059-7794 . 10.1002/humu.20348 . 705–710. 16752402 .
  5. Li . Ben C. . Hogue . Jacob . Eilers . Meg . Mehrotra . Pavni . Hyland . James . Holm . Tara . Prosen . Tracy . Slavotinek . Anne M. . Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue . American Journal of Medical Genetics Part A . 161 . 3 . 2013 . 1552-4825 . 10.1002/ajmg.a.35792 . 619–625. 23401428 .
  6. Jeon . Ga Won . Lee . Mi-Na . Jung . Ji Mi . Hong . Seong Yeon . Kim . Young Nam . Sin . Jong Beom . Ki . Chang-Seok . Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing . Annals of Laboratory Medicine . 34 . 2 . 2014-03-01 . 2234-3806 . 24624349 . 3948826 . 10.3343/alm.2014.34.2.134 . 134–138.
  7. Stevenson . R.E . Wilkes . G . Atelosteogenesis with survival beyond the neonatal period . Proc. Greenwood Genet. Center 2 . 1983 . 32–38.
  8. Ueno . Kazunori . Tanaka . Mamoru . Miyakoshi . Kei . Zhao . Chen . Shinmoto . Hiroshi . Nishimura . Gen . Yoshimura . Yasunori . Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation . Prenatal Diagnosis . Wiley . 22 . 12 . 2002-10-24 . 0197-3851 . 10.1002/pd.470 . 1071–1075. 12454961 .
  9. Nishimurae . Gen . Horiuchi . Takashi . Kim . Ok H. . Sasamoto . Yuka . Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome . American Journal of Medical Genetics . 73 . 2 . 1997-12-12 . 10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W . 132–138. 9409862 .
  10. Maroteaux . P. . Spranger . J. . Stanescu . V. . Le Marec . B. . Pfeiffer . R. A. . Beighton . P. . Mattei . J. F. . Opitz . John M. . Atelosteogenesis . American Journal of Medical Genetics . Wiley . 13 . 1 . 1982 . 0148-7299 . 10.1002/ajmg.1320130106 . 15–25. 7137218 .

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