SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (SEDC)

SEDC is a form of short limbed dwarfism characterized by delayed ossification of the spine, pelvis and proximal epiphyses (1).

CLASSIFICATION

There are four entities within the SEDC family) (2).

• Dominant form of SEDC.
• Recessive form of SEDC (Strudwick type).
• Hypochondrogenesis.
• Achondrogenesis type II (most severe, lethal type).

ULTRASOUND (3)

• Shortened ling bones, of the rhizomelic type. (femur).
• No bowing.
• Normal mineralization.
• Spine normal except in the Achondrogenesis type.

NEONATE (3)

• Shortening of the trunk with rhizomelic shortening of the extremities.
• Lack of ossification of the os pubis, distal femoral and proximal tibial epiphyses, talus and calcaneal bones.
• Bell shaped chest.
• Cleft palate may be present.
• Affected individuals usually live into adulthood and reach a height of 37-52 inches. AS they grow older, they may develop kyphosis, lumbar lordosis, myopia and retinal detachment.

REFERENCES

1. Spranger JW, Langer LO Jr. Spondyloepiphyseal dysplasia congenita. Radiology 1970;94:313.
2. Spranger JW. Pattern recognition in bone dysplasias. Prog Clin Biol Res 1985;200:315.
3. Kirk JS, Comstock CH. Antenatal sonographic appearance of spondyloepiphyseal dysplasia congenita. J Ultrasound Med 1990;9:173-175.