Atelosteogenesis type I

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Atelosteogenesis type I
Other names: Spondylo-humero-femoral dysplasia
Autosomal dominant pattern is the inheritance manner of this condition
SpecialtyMedical 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]

Genetics

This condition is caused by mutations in the filamin B (FLNB) gene.[4][5][6] This gene is located on the short arm of chromosome 3 (3p14).[citation needed]

Pathogenesis

Filamin B forms part of the actin cytoskeleton. How these mutations produce the clinical picture is not yet clear.[citation needed]

Diagnosis

Image shows incomplete ossification and hypoplasia of vertebrae, humeri, femora, tarsals, phalanges

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]

Treatment

There is currently no curative treatment for this condition. Supportive management is all that is currently available.[citation needed]

Epidemiology

This is a rare condition with a prevalence of less than 1/106. The total number of cases reported to date is less than 20.

History

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

References

  1. ↑ Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K (1997) Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr Radiol 27(5):388-396
  2. ↑ Temple K, Hall C A, Chitty L, Baraitser M (1990) A case of atelosteogenesis. J Med Genet 27: 194-197
  3. ↑ Wessels A, Wainwright HC, Beighton P (2011) Atelosteogenesis type I: autopsy findings. Pediatr Dev Pathol 14(6):496-500
  4. ↑ Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D (2006) Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat 27(7):705-710
  5. ↑ Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM (2013) Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am J Med Genet A 161A(3):619-625. doi: 10.1002/ajmg.a.35792
  6. ↑ Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS (2014) Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med 34(2):134-138. doi: 10.3343/alm.2014.34.2.134
  7. ↑ Stevenson RE, Wilkes G (1983) Atelosteogenesis with survival beyond the neonatal period. Proc. Greenwood Genet Center 2: 32-38
  8. ↑ Ueno K, Tanaka M, Miyakoshi K, Zhao C, Shinmoto H, Nishimura G, Yoshimura Y (2002) Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. Prenat Diagn 22(12):1071-1075
  9. ↑ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997) 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. Am J Med Genet 73(2):132-138
  10. ↑ Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF (1982) Atelosteogenesis. Am J Med Genet 13: 15-25
Classification
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