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Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

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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.

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Abbreviations

GA:

General anesthesia

IUGR:

Intrauterine growth restriction

PPS:

Popliteal pterygium syndrome

TEV:

Talipes equinovarus

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Acknowledgments

JEP was supported by the Medical Genetics Research Fellowship Program NIH/NIGMS NIH T32 GM07526. FJP is supported by a Burroughs Wellcome Fund Career Award for Medical Scientists.

Conflicts of interest

The authors listed above have no conflicts of interest to disclose. The first draft was prepared by Jennifer E. Posey, and no honorarium, grant, or other form of payment was received for preparation of this manuscript.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA

    Jennifer E. Posey & Frank J. Probst

  2. Department of Pediatrics, Division of Neonatology, Baylor College of Medicine, 6621 Fannin, Suite 6104, Houston, TX, 77030, USA

    Vedanta Dariya & Muralidhar H. Premkumar

  3. Department of Otolaryngology-Head & Neck Surgery, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA

    Joseph L. Edmonds

  4. Division of Plastic Surgery, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA

    Edward I. Lee

Authors
  1. Jennifer E. Posey
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  2. Vedanta Dariya
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  3. Joseph L. Edmonds
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  4. Edward I. Lee
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  5. Frank J. Probst
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  6. Muralidhar H. Premkumar
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Corresponding author

Correspondence to Muralidhar H. Premkumar.

Additional information

Communicated by Beat Steinmann

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Posey, J.E., Dariya, V., Edmonds, J.L. et al. Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. Eur J Pediatr 173, 1741–1744 (2014). https://doi.org/10.1007/s00431-014-2453-9

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  • DOI: https://doi.org/10.1007/s00431-014-2453-9

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