ATELOSTEOGENESIS

(SPONDYLOHUMEROFEMORAL HYPOPLASIA)

Atelosteogenesis is a lethal chondrodysplasia that results in deficient ossification of numerous bones, especially:

• Humerus, femur and hand bones resulting in rhizomelic dwarfism.
• Thoracic spine.

There is also hypoplasia of the distal segment of the humerus and femur with enlargement of its proximal portion (1).
Although this is a lethal condition prenatal diagnosis is difficult to make.

ULTRASOUND

• Shortening of proximal segments of the extremities.
• Bowing of the long bones.
• Dislocation of the elbow or knee.
• Clubfeet.
• Hypoplasia of the upper thoracic vertebral bodies and adjacent ribs.
• Ulna may be hypoplastic and fibulae are usually absent.
• Less commonly there may be a depressed nasal bridge, cleft palate and a frontal cephalocele.

REFERENCES

1. Kozlowski K, Tsurutu T, Kameda Y et.al. New forms of neonatal death dwarfism. Report of three cases. Pediatr Radiol 1981;10:155.
2. Chervenak FA, Isaacson G, Rosenberg JC et.al. Antenatal diagnosis of frontal cephalocele in a fetus with atelosteogenesis. J Ultrasound Med 1986;5:111.
3. Bowerman RA. Anomalies of the fetal skeleton: Sonographic findings. AJR 1995;164:973-979.