Osteogenesis imperfecta congenita

Osteogenesis

Imperfecta

Congenita

By Hooshang Taybi

Synonyms:

Vrolik’s disease, Porak-Durante syndrome, fragilitas ossium, osteogenesis imperfecta gravis

Heredity:

Autosomal dominant trait with variable expressivity

Chief Clinical Manifestations:

(I) Micromelic infant with bowed and grossly deformed limbs (2) Characteristic craniofacial features: soft head, small face, broad forehead, prominent temporoparietal convexity (3) Deep blue sclerae

Chief Roentgen Manifestations:

(I) Poorly ossified skull with multiple wormian bones (2) Numerous fractures in varying stages of healing (3) Flattened vertebrae

Other lmportant Details:

Variants: Differential

(I) Marked chest deformities (2) Commonly stillborn (3) Hyperextensible joints, loose ligaments and skin None

Diagnosis:

Hypophosphatasia, thanatophoric dwarfism, achondroplasia, metaphyseal chondrodysplasia (type Jansen)

References:

1. King JD, Bobechko WP: J Bone Joint Surg [Br] 53:72,1971 2. Levin EJ: Am J Roentgen01 93:405,1965

3. Remigio PA, Grinvalsky HT: Am J Dis Child 119:524, 1970

184

Seminars

in Roentgenology,

Vol. VIII, No. 2 (April),

1973

MAJOR SYNDROMES

185

Fig. A. Micromelic infant with bowed and greatly deformed limbs. The forehead is broad and there is a prominent temporoparietal convexity. Fig. B. Poorly ossified skull and multiple wormian bones. Figs. C and D. Healing or healed fractures of the ribs and limb bones.