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Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

  • Fatih Gürbüz
  • Serdar Ceylaner
  • Ali Kemal Topaloğlu
  • Bilgin Yüksel

J Clin Res Pediatr Endocrinol 2015;7(2):83-83

Crouzon syndrome with acanthosis nigricans (CSAN) is a clinically and genetically distinct entity caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. CSAN is genetically and clinically different from classic CS. We report a CSAN case with neurological findings as hypoplasia of corpus callosum and inferior vermis. A ten-month-old girl presented with a facial dysmorphia at birth. There was no consanguinity between her parents. She was born as a term neonate weighing 3380 g with no perinatal complications. She has undergone surgery because of choanal atresia at the ninth day of life. Additionally, she has undergone coronal craniotomy surgery because of craniosynostosis due to bilateral coronal stenosis at the age of nine months. On physical examination, her atypical facial features were midface hypoplasia, hypertelorism, craniosynostosis, brachycephaly, maxillary hypoplasia, exophthalmos, bilateral distinctive and low-set ears. Other phenotypic findings were lateral nistagmus bilaterally and widespread acanthosis nigricans on all of curve regions as neck, bilateral axillae. Cranial magnetic resonance imaging revealed hydrocephaly and hypoplasia of corpus callosum and inferior vermis. There was no pathology in abdominal ultrasonography and echocardiography. We detected a de novo heterozygous A391E (c.1172C>A) mutation in our patient. No mutation was detected in the FGFR3 gene in her parents and sisters.

Keywords: Crouzon syndrome, hypoplasia, corpus callosum, inferior vermis, FGFR3