Lethal multiple pterygium syndrome

Last revised by Dr Daniel J Bell on 08 Jan 2021

Lethal multiple pterygium syndrome (LMPS) is a lethal subtype of the multiple pterygium syndrome.

It is primarily characterized by the presence of pterygia (or wings) present in two or more body areas overlying predominantly the large joints. Accompanying joint contractures are almost always present.

The majority of cases carry an autosomal recessive inheritance while a small proportion of cases may carry an X-linked recessive inheritance.

Described features are wide and include

Ancillary sonographic features that may be present include

As the name implies, the condition is fatal with fetal death occurring usually by mid-gestation 3.

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