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lethal type multiple pterygium syndrome
Etiology:
1) multiple pterygia are found infrequently in
a) children with arthrogryposis
b) fetuses with fetal akinesia syndrome
Pathology:
- intrauterine growth retardation
- multiple pterygia (chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, & ankles)
- flexion contractures causing severe arthrogryposis & fetal akinesia
- subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma & lung hypoplasia
- oligohydramnios & facial anomalies (esp cleft palate) are frequent
Genetics:
- associated with defects in CHRNA1, CHRNG, CHRND
Related
nonlethal type multiple pterygium syndrome; Escobar syndrome; Escobar variant multiple pterygium syndrome
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 253290
References
UniProt :accession P02708