Abstract

Abstract Acrocephaly is a common neonatal craniofacial malformation. Saethre-Chotzen syndrome (SCS) is one of the acrocephaly related syndromes less frequently described in the literature. A female newborn term was admitted to our Neonatal Unit to study craniofacial dysmorphia without family history of interest. Pregnancy, childbirth and the neonatal period were uneventful. She had exotropia, short anterior-posterior cranial diameter, flat occiput and wide normotensive anterior fontanelle (beginning at the nose root, continuing through the sagittal suture with the posterior fontanelle) without syndactyly. The scanner imaging confirmed an acrocephaly with fusion of bilateral coronal sutures. We initially suspected a cranyosinostosis due to a Crouzon syndrome or SCS. After differential diagnosis and genetic study the patient was diagnosed as having SCS due to a de novo TWIST1 gene mutation. The craniofacial dysmorphias were corrected early by neurosurgical with good results. This case shows a new example of the phenotypic and genotypic variability of these TWIST1 gene mutations.

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.