alexa Abstract | Importance of multi-disciplinary team approach in feingold syndrome

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Abstract

Feingold Syndrome is an autosomal dominant genetic disorder with a variable phenotypic expression similar to VACTERL association. These two disorders can be confusing since both have clinical similarities included vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal and limb abnormalities. Metopic craniosynostosis demonstrates a spectrum of severity including varying degrees of metopic ridging, bitemporal narrowing and trigonocephaly. Craniosynostosis may require surgical intervention to increase cranial volume and correct dysmorphism. We encountered a patient who was initially diagnosed with VACTERL association by the neonatal intensive care service without formal genetic consultation. The patient was then referred to plastic surgery for positional plagiocephaly with noted isolated metopic craniosynostosis. The multi-disciplinary craniofacial team (consisting of a craniofacial anomaly fellowship trained plastic surgeon, pediatric neurosurgery fellowship training neurosurgeon, pediatric neuropsychologist, medical geneticist, speech pathology, and developmental pediatrician) was involved in the patient’s assessment and treatment process. Genetic evaluation was conducted and suggested the diagnosis of Feingold Syndrome which was confirmed on testing by c.964C>T nonsense mutation in MYCN with a normal chromosomal microarray. Neuropsychiatric testing demonstrated global delay. Pre-existent conditions of microcephaly and developmental delay are part of Feingold syndrome, therefore, the decision of surgical intervention for mild to moderate metopic craniosynostosis was quite complex. The team felt that metopic craniosynostosis may have contributed to poor head growth; therefore, the patient underwent cranio-vault reconstruction (CVR) and subsequently developed a cerebrospinal fluid leak four weeks after CVR. Conservative management failed and the patient required ventriculo-peritoneal shunting. To our knowledge, craniosynostosis has never been reported with Feingold syndrome. In rare cases such as this, a multi-disciplinary team approach is important for properly making a correct diagnosis and treatment decision.

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Author(s): Tomoko Tanaka Thomas W McEwan Catharine J Harris Sarah S Barnett Arshad R Muzaffar DawnH Huber N Scott Litofsky

Keywords

Craniosynostosis, Metopic, Feingold syndrome, VACTERL association, pediatrics

 
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