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Congenital Abnormalities

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Limb reduction defects - Transverse Intercalar - Phocomelia » Limbs Q71.1 - Q72.1 - Q73.1

Definition:

Absence of long bones (*) with terminal parts (**) present.
(*) of arm and forearm [Q71.1], thigh and leg [Q72.1,] or unspecified limb [Q73.1]
(**) Hand [Q71.1] or foot [Q72.1] or unspecified limb [Q73.1], which could be more or less malformed.
In typical phocomelia, a hand or foot, adheres directly to the trunk, like the fins of a seal, from which the name comes.
Notes:
Transverse-intercalary LRD of O'Rahilly
It is not a synonym by a specific type of limb reduction defect, with absence of intercalary segments (arm/ thigh [Q71.1, forearm/ leg [Q72.1, or both [Q73.1), but with presence of terminal segments (hands, feet) of the affected limb.
It is often a consequence of prenatal exposure to thalidomide, which is still used in regions where leprosy is endemic.
Images:
Image 1.
5 cases of upper limb Phocomelia with different degrees of intercalary remnants.
Image 2.
Photo 1 Atypical phocomelia of lower limbs with intercalary remnants.
Photo 2 Typical phocomelia of lower limbs without intercalary remnants.

Notes:

Image:

Images