[Saethre-Chotzen syndrome: a case report].

Autor:	Díez de Los Ríos Quintanero B; Servicio de Pediatría, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, España., Gracia Rojas E; Servicio de Pediatría, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, España., Ortiz Movilla R; Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, España., Cabrejas Núñez MJ; Servicio de Bioquímica Clínica-Genética Médica, Hospital Universitario Puerta de Hierro, Madrid, España.; Universidad de Alcalá, Máster de Genética Médica., Marín Gabriel MÁ; Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, España. mangel.maringa@salud.madrid.org.; Universidad Autónoma de Madrid, Departamento de Pediatría.
Jazyk:	Spanish; Castilian
Zdroj:	Archivos argentinos de pediatria [Arch Argent Pediatr] 2021 Apr; Vol. 119 (2), pp. e129-e132.
DOI:	10.5546/aap.2021.e129
Abstrakt:	The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome. Competing Interests: GV is a principal investigator at the National Scientific and Technical Research Council (Consejo Nacional de Investigaciones Científicas y Técnicas, CONICET) and an Associated Professor of the Microbiology Chair at the Faculty of Chemical Engineering (Facultad de Ingeniería Química, FIQ) of Universidad Nacional del Litoral (UNL). GPM is the principal investigator of several clinical studies sponsored by the pharmaceutical industry. Both authors have performed technological linkage tasks (technological services, project development, consultancy, and counseling) with several food industries. These activities are considered intellectually independent from scientific manuscript writing and had no effect on the contents of this study. (Sociedad Argentina de Pediatría.)
Databáze:	MEDLINE
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