Atelosteogenesis type I
Rare autosomal dominant skeletal disorder with poor prognosis.
Atelosteogenesis type I is a rare autosomal dominant skeletal disorder evident at birth, associated with a very poor prognosis. It may be diagnosed antenatally and is caused by mutations in the filamin B (FLNB) gene.
- field
- Medical genetics
- known_for
- Severe short-limbed dwarfism, joint dislocations, and cardiorespiratory failure due to pulmonary or tracheobronchial hypoplasia
- first_described
- 1982 by Maroteaux et al.
Lore & Background
Atelosteogenesis type I is a condition that becomes evident at birth, with clinical features including abnormal facies, prominent forehead, hypertelorism, depressed nasal bridge with a grooved tip, micrognathia, cleft palate, severe short-limbed dwarfism, joint dislocations of the hip, knee, and elbow, club feet, and cardiorespiratory failure. The cardiorespiratory failure results from pulmonary hypoplasia or tracheobronchial hypoplasia.
The condition is caused by mutations in the filamin B (FLNB) gene. Diagnosis can be made antenatally using ultrasound or magnetic resonance imaging, and radiological findings include severe platyspondyly, distally tapered or absent humeri and femurs, shortened or bowed radii, ulnas, and tibias, hypoplastic pelvis and fibulas, and deficient ossification of metacarpals and phalanges.
Infants may be stillborn, and those live-born do not survive long. The differential diagnosis includes achondroplasia, achondrogenesis, atelosteogenesis III, boomerang dysplasia, campomelic dysplasia, Ellis–Van Creveld syndrome, hypophosphatasia, Melnick Needles syndrome, metatropic dysplasia, osteogenesis imperfecta, Roberts syndrome, short-rib polydactyly syndrome, and thanatophoric dysplasia.
Reader's Guide
Atelosteogenesis type I is a rare autosomal dominant condition first described in 1982 by Maroteaux et al. Its significance lies in its severe presentation at birth, with a very poor prognosis due to cardiorespiratory failure from pulmonary or tracheobronchial hypoplasia. The condition is caused by mutations in the FLNB gene, which is critical for skeletal development. Diagnosis can be made antenatally via ultrasound or MRI, allowing for early detection. The radiological features, such as severe platyspondyly and absent or incomplete long bones, are distinctive. The legacy of this condition includes its role in understanding filamin B-related skeletal disorders and the importance of genetic counseling for affected families. Despite advances in prenatal imaging, the prognosis remains uniformly poor, with most infants being stillborn or dying shortly after birth.
Did You Know?
- Atelosteogenesis type I is an autosomal dominant condition.
- It may be diagnosed antenatally with ultrasound or magnetic resonance imaging.
- Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia.
- The condition was first described by Maroteaux et al. in 1982.
Frequently Asked Questions
Who is Atelosteogenesis type I?
It is an extremely rare inherited bone condition that becomes apparent the moment a baby is born. It follows an autosomal dominant inheritance pattern and carries a very grim outlook for affected infants.
What are Atelosteogenesis type I's powers/role?
The condition manifests as dramatically shortened limbs, multiple joint dislocations, and critically underdeveloped lungs or airways. These structural issues typically lead to life-threatening breathing and heart problems in the newborn.
How does Atelosteogenesis type I's story end?
Unfortunately, the prognosis is exceedingly poor, with most affected babies succumbing shortly after birth. The primary cause of death is respiratory and cardiac failure stemming from the underdeveloped pulmonary and tracheobronchial structures.
Why is Atelosteogenesis type I important?
It holds a place in medical genetics as one of the most severe skeletal dysplasias recognized. The condition was first formally described in 1982 by Maroteaux and colleagues, helping clinicians identify and counsel families facing this devastating diagnosis.
What's Atelosteogenesis type I's origin story?
The root cause lies in harmful mutations within the filamin B (FLNB) gene, which disrupts normal bone and cartilage development. Because it is autosomal dominant, a single altered copy of the gene from one parent is enough to trigger the full spectrum of skeletal abnormalities.
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