A rare case of acrocephaly: Saethre-Chotzen syndrome or Crouzon?
| Autor: | Francisco Javier Álvarez Guisasola, Elena Urbaneja Rodríguez, Rebeca Garrote Molpeceres, José Luis Hernanz Sanz, María Asunción Pino Vázquez, Hemenegildo González García |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Embryology medicine.medical_specialty business.industry Obstetrics and Gynecology Craniofacial dysmorphia 030105 genetics & heredity medicine.disease Dermatology 03 medical and health sciences Acrocephaly Pediatrics Perinatology and Child Health Rare case Medicine TWIST1 gene Saethre–Chotzen syndrome business |
| Zdroj: | Case Reports in Perinatal Medicine. 5:151-155 |
| ISSN: | 2192-8959 2192-8932 |
| DOI: | 10.1515/crpm-2015-0057 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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