Clinically and genetically heterogeneous group of syndromes characterized by multiple limb contractures (arthrogryposis) with soft tissue webbing across joints
Lethal MPS (LMPS) also with associated cystic hygroma, hydrops, and pulmonary hypoplasia
IMAGING
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Natural History & Prognosis
Treatment
Selected References
Hakonen AH et al: Recessive MYH3 variants cause "contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Am J Med Genet A. 182(11):2605-10, 2020
Vogt J et al: A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. Clin Genet. 97(6):908-14, 2020
Mohtisham FS et al: Lethal multiple pterygium syndrome. BMJ Case Rep. 12(5), 2019
Abdalla E et al: Lethal multiple pterygium syndrome: a severe phenotype associated with a novel mutation in the nebulin gene. Neuromuscul Disord. 27(6):537-41, 2017
Chong JX et al: Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3. Am J Hum Genet. 96(5):841-9, 2015
McKie AB et al: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2:148, 2014
Robinson KG et al: Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 161A(12):3042-8, 2013
Barros FS et al: Prenatal diagnosis of lethal multiple pterygium syndrome using two-and three-dimensional ultrasonography. J Clin Imaging Sci. 2:65, 2012
Vogt J et al: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 49(1):21-6, 2012
Gundogan M et al: First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 21(5):466-70, 2006
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
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TERMINOLOGY
Abbreviations
Multiple pterygium syndrome (MPS)
Definitions
Clinically and genetically heterogeneous group of syndromes characterized by multiple limb contractures (arthrogryposis) with soft tissue webbing across joints
Lethal MPS (LMPS) also with associated cystic hygroma, hydrops, and pulmonary hypoplasia
IMAGING
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Natural History & Prognosis
Treatment
Selected References
Hakonen AH et al: Recessive MYH3 variants cause "contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. Am J Med Genet A. 182(11):2605-10, 2020
Vogt J et al: A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. Clin Genet. 97(6):908-14, 2020
Mohtisham FS et al: Lethal multiple pterygium syndrome. BMJ Case Rep. 12(5), 2019
Abdalla E et al: Lethal multiple pterygium syndrome: a severe phenotype associated with a novel mutation in the nebulin gene. Neuromuscul Disord. 27(6):537-41, 2017
Chong JX et al: Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3. Am J Hum Genet. 96(5):841-9, 2015
McKie AB et al: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2:148, 2014
Robinson KG et al: Neuromotor synapses in Escobar syndrome. Am J Med Genet A. 161A(12):3042-8, 2013
Barros FS et al: Prenatal diagnosis of lethal multiple pterygium syndrome using two-and three-dimensional ultrasonography. J Clin Imaging Sci. 2:65, 2012
Vogt J et al: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 49(1):21-6, 2012
Gundogan M et al: First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 21(5):466-70, 2006
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