lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome (LMPS) is a lethal subtype of the multiple pterygium syndrome.
Epidemiology
Associations
Pathology
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.
Genetics
The majority of cases carry an autosomal recessive inheritance while a small proportion of cases may carry an X-linked recessive inheritance.
Radiographic features
Antenatal ultrasound
Described features are wide and include
- presence of cutaneous webs (pterygia) across joints
- presence of a cystic hygroma
- presence of hydrops fetalis
- craniofacial
- micrognathia
- cleft palate
- flattened nasal bridge
- hypertelorism
Ancillary sonographic features that may be present include
- presence of fetal hypokinesia
- presence of polyhydramnios
Treatment and prognosis
As the name implies, the condition is fatal with fetal death occurring usually by mid-gestation .
Complications
- development of pulmonary hypoplasia
Differential diagnosis
- Pena Shokeir syndrome: has some features similar to that of the lethal multiple pterygium syndrome
- arthrogryposis multiplex congenita
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu lethal multiple pterygium syndrome:
Arthrogryposis
multiplex congenita