Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome

Perrotin, F.; Haddad, Georges; Guichet, Agnès; Paillet, Christian; Moraine, Claude; Body, G.

doi:10.1002/1097-0223(200006)20:6<501::aid-pd862>3.0.co;2-x

Cited by 10 publications

(7 citation statements)

References 12 publications

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“…The cleft lip is readily identified with prenatal ultrasound but cleft palate without cleft lip or other subtle anomalies mentioned above can simply be missed in routine anomaly screening. However, based on our cases and previous case reports [6,7], cleft lips, though just shallow grooves of the lip seen in our case, seem to be the first clue for further searching, leading to pattern recognition of the syndrome and molecular genetic testing. In cases of high risk on the basis of familial history (case reported by Perrotin et al), only one abnormality should warrant genetic confirmation, while, in the cases of de novo like our case, pattern relatively specific for PPS may be needed for molecular genetic testing.…”

Section: Discussionsupporting

confidence: 61%

“…Nearly all of the cases in previous reports are postnatally diagnosed. To the best of our knowledge, only few cases were prenatally detected [6,7]. The objective of this study is to describe prenatal ultrasound features of popliteal pterygium syndrome, in de novo cases of the fetuses, which was confirmed the diagnosis by trio whole-exome sequencing.…”

Section: Introductionmentioning

confidence: 79%

“…Only two case reports were found. The first case with prenatal diagnosis was reported by Perrotin et al in 2000 [7], on the basis of the main sonographic findings of severe amyotrophy with fixed knees, equinovarus feet and cleft lip/palate as well as postnatal confirmation of bilateral popliteal pterygia. However, no molecular genetic diagnosis was performed.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

et al. 2021

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Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder, characterized by the cleft palate with or without cleft lip, limbs abnormalities with highly characteristic features of popliteal webbing, syndactyly, and genital abnormalities and nail anomalies. Prenatal diagnosis of PPS has been extremely rare. We describe a unique case of fetal PPS at 20 weeks of gestation. The diagnosis of PPS was based on the ultrasound findings of bilateral popliteal webbings, extending from posterior aspects of the upper thighs through the lower legs, resulting in restriction in knee extension, bilateral equinovarus feet with syndactyly, ambiguous genitalia and the grooved lip. Anatomical structures were otherwise normal. Trio whole-exome sequencing revealed a de novo heterozygous IRF6 gene mutation in the fetus, confirming the diagnosis with PPS. In conclusion, popliteal webbing or combination of facial cleft or cleft variants and bilateral abnormal postures of the lower limbs is suggestive of PPS and genetic diagnosis should be warranted.

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Section: Discussionsupporting

confidence: 61%

Section: Introductionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

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Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

et al. 2021

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“…PPS is the least severe of these and is characterized by cleft lip and/or palate, congenital lip fistulae, fibrous syngnathia, popliteal pterygium, syndactyly, abnormal external genitalia, ankyloblepharon, and a triangular fold of skin overlying the hallux [2]. Findings of facial clefting and popliteal pterygia on prenatal imaging should raise suspicion of this diagnosis, particularly in the setting of a history of lip fistulae or facial clefting in a first-degree relative [8]. Patients with PPS typically have a normal intellect, and management should focus on measures to optimize growth and development, including lysis of oral and eyelid adhesions and cleft repair [4].…”

Section: Discussionmentioning

confidence: 99%

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

et al. 2014

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“…Prenatal diagnosis is by ultra-sonographic study [31]. Doppler ultrasound is limited by operator dependence, particularly due to difficulty posed by the contracted knees.…”

Section: Ultrasound Examinationmentioning

confidence: 99%

Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)

Mariappan¹,

Shetty²

2016

J. Adv. Plast. Surg. Res.

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Background: IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Popliteal pterygia are found in popliteal pterygium syndrome, multiple pterygium syndrome and Arthrogryposis. The popliteal pterygium syndrome is a rare congenital condition, in which the patient has facial, genitourinary and skeletal anomalies along with popliteal pterygium. Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformation disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. AD-PPS is associated with mutations in the IRF6 gene (1q32.2-q32.3), involved in the formation of connective and epithelial tissues. Almost all affected patients harbor mutations in this gene. The word ‘pterygium’ is derived from the Greek word pterygion, which means wing. Pathologically it denotes a wing-like abnormal band of tissue. The most obvious characteristics of this syndrome are popliteal pterygium and a triangular crease of skin over the hallux. The orofacial findings include cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. The dental problems are overshadowed by the major syndromic manifestations. These patients have special dental needs and early preventive dental care and appropriate dental treatment at the optimal time is important. Diagnosis of pterygium syndrome is based on the clinical findings and confirmed by molecular genetic testing. AD-PPS is highly associated with missense mutations that alter residues that are predicted to interact directly with DNA in exons 3 and 4 of IRF6. Conclusion: An understanding of the molecular genetic basis of this syndrome is essential for prenatal diagnosis and also for genetic counseling of the parents. Keywords: Popliteal pterygium syndrome, Escobar syndrome, Magnetic resonance imaging, Congenital contractures, Genetic counseling.

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Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome

Cited by 10 publications

References 12 publications

Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)

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