2012
DOI: 10.4103/2156-7514.103055
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Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography

Abstract: Lethal multiple pterygium (LMP) is a series of disorders of fetal formation with a heterogeneous range of manifestations that generally include cystic hygroma, pulmonary hypoplasia, cleft palate, cryptorchidism, joint contractures, fetal akinesia, heart defects, growth restriction, and intestinal malrotation. The prenatal diagnosis of this syndrome is suspected when two-dimensional ultrasound (2DUS) scan shows several malformations.. The three-dimensional ultrasound (3DUS) in rendering mode permits the spatial… Show more

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Cited by 7 publications
(4 citation statements)
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“…[1] The lethal form of MPS (OMIM 253290) has a wide clinical spectrum of malformations such as webbing of skin (pterygia) of elbow, knee, neck, cystic hygroma, cleft lip/palate, rocker bottom feet deformity, pulmonary hypoplasia, cryptorchidism, joint contractures, fetal akinesia, cardiac defects, kyphoscoliosis, fetal growth restriction, and intestinal malrotation. [12] The mode of inheritance can be either autosomal recessive, autosomal dominant, or X-linked dominant. [1] The exact etiology is unknown, but the condition has an association with embryonic acetylcholine receptor mutations.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…[1] The lethal form of MPS (OMIM 253290) has a wide clinical spectrum of malformations such as webbing of skin (pterygia) of elbow, knee, neck, cystic hygroma, cleft lip/palate, rocker bottom feet deformity, pulmonary hypoplasia, cryptorchidism, joint contractures, fetal akinesia, cardiac defects, kyphoscoliosis, fetal growth restriction, and intestinal malrotation. [12] The mode of inheritance can be either autosomal recessive, autosomal dominant, or X-linked dominant. [1] The exact etiology is unknown, but the condition has an association with embryonic acetylcholine receptor mutations.…”
Section: Discussionmentioning
confidence: 99%
“…The differential diagnosis includes Bartsocas-Papas, Neu-Laxova, and arthrogryposis multiplex congenital. [23] As the diagnosis of MPS is confirmed usually in the later half of pregnancy, the multimodal approach should be taken consisting of obstetrician, radiologist, genetic counselor, and psychological counseling. Genetic counseling is essential for future pregnancies as both lethal and Escobar variant of MPS has autosomal/X-linked inheritance.…”
Section: Discussionmentioning
confidence: 99%
“…The prevalence of MPS remains uncertain and is supposed to be less than 1/100,000, as reported by a previous study (Mohtisham et al, 2019). MPS is typically divided into prenatally lethal and nonlethal types (Barros et al, 2012;Chen, 2012). The nonlethal form of MPS is also known as Escobar syndrome.…”
Section: Introductionmentioning
confidence: 91%
“…3DUS in rendering mode has clearly demonstrated the remarkable fetal abdominal distension and macroglossia. For many years, 3DUS in rendering mode has been utilized in the assessment of fetal malformations, allowing a better understanding of the parents in relation to the fetal anomalies and aiding in the definition of the approach to be adopted during the prenatal period (10,11) . In spite of not being essential for the diagnosis of BWS, 3DUS was extremely important for a better understanding on the disease by the parents and by the involved multidisciplinary team.…”
Section: Bws Was First Described By Beckwith In 1963 and Bymentioning
confidence: 99%