Lethal multiple pterygium syndrome

Joshi, Tulika; Noor, Nazihah; Kural, Moolraj; Tripathi, Amita

doi:10.4103/2249-4863.192361

Cited by 3 publications

(4 citation statements)

References 3 publications

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“…MPS is often diagnosed in the last months of pregnancy with the manifestations mentioned above, and genetic counseling should be done before the next pregnancy. 14 LMPS is lethal during pregnancy or soon after birth 4 , 5 ; as we see in our case, that expired about 10 minutes after birth. Knowing how to diagnose and deal with this disorder prevents additional evaluations and investigations and reduces parents' worries.…”

Section: Discussionsupporting

confidence: 63%

“…But we did not find this presentation in second trimester sonography. MPS is often diagnosed in the last months of pregnancy with the manifestations mentioned above, and genetic counseling should be done before the next pregnancy 14 . LMPS is lethal during pregnancy or soon after birth 4,5 ; as we see in our case, that expired about 10 minutes after birth.…”

Section: Discussionmentioning

confidence: 58%

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Lethal multiple pterygium syndrome in a newborn, a case report

Sadeghimoghadam

Shirdel

Hantoushzadeh

et al. 2023

Clinical Case Reports

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Key Clinical Message Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low‐set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.

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Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 58%

Lethal multiple pterygium syndrome in a newborn, a case report

Sadeghimoghadam

Shirdel

Hantoushzadeh

et al. 2023

Clinical Case Reports

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“…Cystic hygroma with meningocele in foetus 2, would indicate pterygium syndrome, Knobloch syndrome and Joubert syndrome. 24 Bowel atresia was found in conjunction with hypoplastic left heart in foetus association. 25 CHARGE syndrome can be a differential although study by Sanlaville et al shows that the more constant features are external ear anomalies, arhinencephaly and semi-circular canal agenesis.…”

Section: Resultsmentioning

confidence: 99%

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Jaiswal

Sehgal

Kaur

et al. 2021

Int J Reprod Contracept Obstet Gynecol

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Background: Perinatal outcome is one of the major indicators of evaluating health care system of a country. Congenital defects form important components of this parameter. The aim of the study was to determine the risk factors associated with congenital malformations in foetuses.Methods: All antenatal mothers whose foetuses were detected to have congenital defects on ultrasonography irrespective of period of gestation were enrolled for the study.Results: Eighty-six pregnant women with prenatally diagnosed fetal anomalies were enrolled for the study, out of which, 87.2% (N=75) belonged to 20-30 years age group. Majority of the subjects were educated till secondary school. Compared to primigravidae, the incidence of malformations was significantly higher in the multigravida group (69.8% vs 30.2% respectively). Thirty-eight (44.2%) mothers with malformed foetuses missed folic acid intake during early pregnancy. Only 40% mothers had prior history of abortions. Smoking was seen in 9% of subjects with malformations. Seven (8.3%) mothers had previous history of malformations and 5 (5.8%) reported a family history of malformations. Consanguineous marriage was observed in 4.7% of couples. Oligohydramnios or anhydramnios was associated with 11.6% foetuses, while polyhydramnios was seen in 53.5%. CNS malformations were seen in 57% of foetus, followed by genitourinary system malformations (9.2%).Conclusions: Tertiary level hospitals need to be upgraded with a dedicated multidisciplinary team of foetal medicine to cater to medical, clinical, surgical, preventive and therapeutic needs of malformed foetuses.

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“…The nonlethal form of MPS is also known as Escobar syndrome. The lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures, causing severe arthrogryposis and fetal akinesia (Vogt et al, 2008;Joshi et al, 2016;Mohtisham et al, 2019). In addition, although the most common inheritance model is autosomal recessive, the autosomal dominant and X-linked inheritance has also been reported (Tolmie et al, 1987;Meyer-Cohen et al, 1999;Chong et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Zhuang¹,

Wang²,

Luo

et al. 2022

Front. Genet.

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Background: Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures.Case presentation: We herein report a Chinese case with a history of three adverse pregnancies demonstrating the same ultrasonic phenotypes, including increased nuchal translucency, edema, fetal neck cystoma, reduced movement, joint contractures, and other congenital features. Whole-exome sequencing (WES) revealed novel compound heterozygous variants in the CHRNA1 gene NM_000079.4: c.[1128delG (p.Pro377LeufsTer10)]; [505T>C (p.Trp169Arg)] in the recruited individual, and subsequent familial segregation showed that both parents transmitted their respective mutation.Conclusion: For the first time, we identified an association between the CHRNA1 gene and the recurrent lethal multiple pterygium syndrome (LMPS) in a Chinese family. This finding may also enrich the mutation spectrum of the CHRNA1 gene and promote the applications of WES technology in etiologic diagnosis of ultrasound anomalies in prenatal examination.

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Lethal multiple pterygium syndrome

Cited by 3 publications

References 3 publications

Lethal multiple pterygium syndrome in a newborn, a case report

Lethal multiple pterygium syndrome in a newborn, a case report

Profile of congenital defects in foetuses: incidence and risk factors: a prospective observational study

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

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