Atelosteogenesis type I | |
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Other names | Spondylo-humero-femoral dysplasia |
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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 for the baby. It may be diagnosed antenatally.
Clinical features include [2]
Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia. [3]
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]
Filamin B forms part of the actin cytoskeleton. How these mutations produce the clinical picture is not yet clear.[ citation needed]
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]
This includes [9]
There is currently no curative treatment for this condition. Supportive management is all that is currently available.[ citation needed]
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.
This condition was first described by Maroteaux et al. in 1982. [10]
Atelosteogenesis type I | |
---|---|
Other names | 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 for the baby. It may be diagnosed antenatally.
Clinical features include [2]
Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia. [3]
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]
Filamin B forms part of the actin cytoskeleton. How these mutations produce the clinical picture is not yet clear.[ citation needed]
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]
This includes [9]
There is currently no curative treatment for this condition. Supportive management is all that is currently available.[ citation needed]
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.
This condition was first described by Maroteaux et al. in 1982. [10]