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Congenital Abnormalities

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Short Limbs and Corporal Disproportion » General Q77.-

Definition:

Includes newborns, live or still borns, with short limbs, trunk-limbs disproportions, and / or narrow chest, and / or because it seems to be a skeletal dysplasia for any other reason.
Notes:
Despite that IDC10 offers several specific codes for each type of skeletal dysplasia we recommend to, codify all the cases in the most general category Q77.-: “Osteochondrodysplasia with defects of growth of tubular bones and spine” due to the complexity to have a diagnosis at birth. Even more, if a supposed specific diagnostic as Q78.0, for Osteogenesis imperfecta (Bone fragility | Osteopsathyrosis) is not really an etiological diagnostic because nowadays there are many different types of osteogenesis imperfecta with their own etiologies.
The exact diagnosis is radiologic and should be made by a specialist in skeletal dysplasia with x ray results, no necessarily by a radiologist.
The ecography, as other imagenological tools does not help to get an accurate diagnostic.
Short limbs and body disproportion at birth, have to lead to immediately diagnose a skeletal dysplasia, and the immediate concern must be a frontal and lateral whole body radiography to document the patient due to their high perinatal mortality. Later on those radiographies will allow doing the necessary consults to establish the skeletal dysplasia etiology, in which depends the risk for future offspring. This goal justifies all the effort to get a proper diagnostic even if the patient is dead.

Notes:

Image:

Image 1. 12 photos of 12 newborns with short lims and body disproportion with diverse types of skeletal dysplasia.

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