Osteogenesis Imperfecta

Ariane Staub Neish, MD
Carl S Winalski, MD

July 25, 1995

Presentation

Imaging Findings

Plain radiographs (anteroposterior and lateral views) of the fetus indicate the following:

• Skull: Minimal mineralization at the skull base only.
• Long Bones: General demineralization; short, telescoped long bones secondary to in utero fractures. The provisional zones of calcification are preserved (ends of long bones are sharp).
• Ribs: Beaded appearance secondary to multiple fractures.

Diagnosis

Discussion

• osteoporosis
• blue sclerae
• dentingenesis imperfecta
• premature otosclerosis

Classification of Osteogenesis Imperfecta: (1)

Type	Mode of Inheritance	Description
I	Dominant	Mild fragility without deformity, short stature
II	Dominant or Recessive	Perinatal lethal
III	Dominant or Recessive	Severe, progressive deformity.
IV	Dominant	Skeletal fragility and osteoporosis, bowing.

Prenatal sonographic diagnosis of the lethal type II OI is manifested by short femurs at 16 and 17 weeks gestation and bowing and fractures at 19 weeks.

The major differential diagnosis to consider is hypophosphatasia. As with OI, patients with the severe lethal congenital form of hypophosphatasia have generalized demineralization, bowing deformities, absent mineralization of the cranial vault and wormian bone formation. Two distinguishing features are 1) paper thin vertebral bodies, and 2) large metaphyseal defects extending into the diaphysis secondary to the abnormal zone of provisional calcification. Biochemical studies demonstrating low serum alkaline phosphatase and phosphoethanolamine in the urine confirm the diagnosis of hypophosphatasia.

Three other skeletal dysplasias also resemble OI and in particular share the common feature of the demineralized cranial vault:

1. Short Rib Polydactyl Syndrome
   (Saldino-Noonan Syndrome)
   Distinguished from OI by absence of fractures and bowing and irregular metaphyses.
2. Achondrogenesis Type I
   Distinguished from OI by the absent sacrum and narrowed interpediculate distance.
3. Osteodysplasia
   (Melnik-Needles Syndrome)
   Distinguished from OI by the bizarre shape of the pelvis.

References

2. Resnick D, Niwayama G. Diagnosis of bone and joint disorders. 2nd ed. Philadephia (PA): WB Saunders, 1988;4:3389-3400.

3. Wynne-Davies R, Hall CM, Apley GA. Atlas of skeletal dysplasias. New York (NY):Churchill Livingstone, 1985:393, 411-12.

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