Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

Abstract

We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy. Conclusion This report illustrates the potential for airway compromise in PPS patients and the need for thorough neonatal airway assessment.

Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

“…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.…”

“…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.…”

“…However, no molecular genetic diagnosis was performed. In 2014, Posey et al [6] reported a prenatal diagnosis of PPS with ultrasound (cleft) and MRI (popliteal web) at 24 weeks of gestation and postnatal confirmation with IRF6 mutation analysis. The summary of prenatal cases is presented in…”

“…However, no molecular genetic diagnosis was performed. In 2014, Posey et al [6] reported a prenatal diagnosis of PPS with ultrasound (cleft) and MRI (popliteal web) at 24 weeks of gestation and postnatal confirmation with IRF6 mutation analysis. The summary of prenatal cases is presented in Postnatally, abnormalities commonly seen in PPS are as follows [8]: facial clefts (91-97%), lower lip pits or sinuses (45%), popliteal pterygium (webbing) with some degree of contractures or restriction of mobility (58%), syndactyly (30%), genitourinary anomalies (37%), and skin abnormalities around the nails (33%).…”

Popliteal Pterygium Syndrome

“…2. Syngnathia in patients with PPS has raised concerns regarding oral feeds and airway compromise: need for thorough neonatal airway assessment (Posey et al 2014). 3.…”