Sonographic features of lethal multiple pterygium syndrome at 14 weeks

Chen, Min; Chan, Gavin Shueng-wai; Lee, Chin Peng; Tang, Mary Hoi Yin

doi:10.1002/pd.1166

Cited by 14 publications

(4 citation statements)

References 17 publications

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“…1 Suspected Hypoplastic left heart. Upper limbs: Pterygia: chin to sternum, axillae Lower limbs: Pterygia: antecubital, popliteal regions and bilateral rockerbottom feet, clubfeet Craniofacial: micrognathia, down slanting palpebral fissures and low-set malformed ears Others: non Chen et al [22] (2005) 6 Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy 1…”

Section: Discussionmentioning

confidence: 99%

Cardiac anomalies associated with Escobar syndrome

et al. 2021

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Rationale: Escobar syndrome (ES) is an autosomal recessive disorder. It is highly characterized by facial abnormalities, congenital diaphragmatic muscle weakness, myasthenic-like features, and skin pterygiums on multiple body legions. ES is a rare condition associated with many external and internal abnormalities. The internal malformations described in ES affect many organs including the heart, lungs, esophagus, liver, spleen, and intestine. The purpose of this paper is to explore the cardiac manifestations associated with ES.Patient concerns: A 3.5-year-old girl, who was born for double first cousins, was admitted to the hospital for neuromuscular evaluation of multiple congenital contractures.Diagnosis: The girl was diagnosed with ES and isolated dextrocardia which is a rare cardiac manifestation. However, to the best of our knowledge, no similar cases have been reported to date, and this case is thus believed to be very rare. Interventions:The patient underwent an operative intervention to correct the bilateral fixed flexion deformity at her knees which was related to the posterior bilateral fibrotic bands/pterygia.Outcomes: Post-operatively, complete knee extension was obtained, the patient was fitted with a cast and extension night splint. She was discharged alive and had no complications. The patient was followed regularly in the orthopedic clinic and had periodic physiotherapy sessions.Conclusions: ES and isolated dextrocardia concurrence in the presented case resulted from different pathogenic mechanisms. Our findings suggest that ES might be caused by dysfunction in the acetylcholine receptor throughout fetal life, which may have affected muscle strength and movement. Other cardiac conditions include hypoplastic left-sided heart, Hypertrophic cardiomyopathy, patent ductus arteriosus, and heterotaxia.Abbreviations: AChR = acetylcholine receptor, ASD = atrial septal defect, CHRNG = cholinergic receptor nicotinic gamma, ES = Escobar syndrome, PDA = patent ductus arteriosus, PFO = patent foramen ovale.

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Section: Discussionmentioning

confidence: 99%

Cardiac anomalies associated with Escobar syndrome

et al. 2021

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“…[45] However, many other chromosomal syndromes may also present these ultrasound markers. [6] For this reason, in most cases, it is only possible to suspect LMP at a more advanced stage of pregnancy, when the joint contractures become more evident, along with absence of normal fetal movement.…”

Section: Discussionmentioning

confidence: 99%

“…[1–3] However, presence of joint contractures and fetal akinesia concomitantly with a normal karyotype is not exclusively a feature of LMP, thus it becomes necessary to make a differential diagnosis with other syndromes such as Bartsocas-Papas, Neu-Laxova, and arthrogryposis multiplex congenita, among others. [47]…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography

Barros

Júnior

Rôlo

et al. 2012

Journal of Clinical Imaging Science

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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 visualization of these malformations, allowing better understanding of this anomaly by parents. We report a case of a fetus in the second trimester with multiple abnormalities suggestive of LMP that were identified using 2DUS, and emphasize the importance of 3DUS in counseling the parents.

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“…Malformed ribs 7. Ultrasonographic features at first trimester of pregnancy (Meizner et al 1993;Chen et al 2005;Gundogan et al 2006) 1. Cystic hygroma 2.…”

Section: Mutations In Ryr1 Have Been Associatedmentioning

confidence: 99%

Lethal Multiple Pterygium Syndrome

Chen¹

2016

Atlas of Genetic Diagnosis and Counseling

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Sonographic features of lethal multiple pterygium syndrome at 14 weeks

Cited by 14 publications

References 17 publications

Cardiac anomalies associated with Escobar syndrome

Cardiac anomalies associated with Escobar syndrome

Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography

Lethal Multiple Pterygium Syndrome

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