“ This is an autosomal recessive disease that is often diagnosed early in childhood. Patients present with growth retardation/dwarfism, micr...
“
This is an autosomal recessive disease that is often diagnosed early in childhood. Patients present with growth retardation/dwarfism, micrognathia, dystrophic nails and characteristic facies (beaked nose, receding jaw and yellowed teeth).
APPENDICULAR X-RAY
• Generalised increased density to the long bones (but medullary cavity is spare, unlike in osteopetrosis).
• Thickened bone cortex.
• Multiple healing fractures of varying ages.
• Short distal phalanges.
FACIAL BONES X-RAY
• Hypoplastic facial bones and sinuses
• Wormian bones
• Brachycephaly
• Widened sutures
CHEST X-RAY
• Resorption of the lateral ends of the clavicles
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