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Lethal multiple pterygium syndrome

Radswiki and Dr Yuranga Weerakkody et al.

The lethal multiple pterygium syndrome (LMPS) is a lethal sub type of the multiple pterygium syndrome.

Pathology

It is primarily characterised 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.

Genetics

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

Associations

Radiographic features

Antenatal ultrasound

Described features are wide and include

presence of cutaneous webs (pterygia) across joints
presence of a cystic hygroma ^4-5
presence of hydrops fetalis
craniofacial
- micrognathia
- cleft palate ^4-5
- flattened nasal bridge
- hypertelorism

Ancillary sonographic features that may be present include

presence of fetal hypokinesia
presence of polyhydramnios

Complications

development of pulmonary hypoplasia

Prognosis

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

Differential diagnosis

Consider

Pena Shokeir syndrome : has some features similar to that of the lethal multiple pterygium syndrome
arthrogryposis multiplex congenita

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