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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Binder syndrome.

Shaheel Chummun1, N R McLean, M Nugent

  • 1Department of Plastic Surgery, Derriford Hospital, Plymouth, United Kingdom. shaheelchummun@hotmail.com

The Journal of Craniofacial Surgery
|July 11, 2012
PubMed
Summary
This summary is machine-generated.

Chondrodysplasia punctata (CDP) is often misdiagnosed as Binder syndrome due to similar features. This review highlights the need for multidisciplinary management of both conditions to improve patient outcomes.

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Area of Science:

  • Craniofacial Surgery
  • Genetics
  • Pediatric Medicine

Background:

  • Chondrodysplasia punctata (CDP) frequently presents with Binder-type features, leading to misdiagnosis as Binder syndrome.
  • Binder syndrome and CDP share overlapping phenotypic characteristics, complicating differential diagnosis.

Purpose of the Study:

  • To review the management and outcomes of patients diagnosed with Binder syndrome and CDP.
  • To evaluate the effectiveness of multidisciplinary care for these conditions.

Main Methods:

  • Retrospective review of patient records and radiographs at the Australian Craniofacial Unit since 1976.
  • Data collection included demographics, medical/surgical issues, management, and complications.

Main Results:

  • Of 72 patients, 60 had Binder syndrome and 12 had CDP.
  • 90% underwent surgical correction, with a mean of 2.4 procedures per patient.
  • 28% experienced postoperative complications, including necrosis, osteomyelitis, and nerve damage.

Conclusions:

  • Binder syndrome may be an "association" rather than a distinct syndrome due to shared features with CDP.
  • Management of patients with Binder syndrome and CDP should occur in a multidisciplinary setting.