title: Craniofacial dyssynostosis: description of the first four Spanish cases and review.
abstract: Craniofacial dyssynostosis (CD) is characterized by premature fusion of the lambdoid and posterior part of the sagittal sutures, and short stature. Thus, the skull shape becomes dolichocephalic with protuberant forehead and either bulging or flat occiput. Facial changes are secondary to the skull defects, and some additional findings have also been described. We report on the first four known Spanish patients. They were unrelated and had Spanish ancestors. In the three previous reports about this syndrome, the authors hypothesized that the frequency of the gene causing CD must be rather high in the Spanish population, and relatively common in areas with Spanish ancestry. We have estimated the minimal birth prevalence of the syndrome in 0.51 per million livebirths. It has been previously suggested that the syndrome is inherited as an autosomal recessive trait, since there were two affected sisters among the nine published cases. Phenotypic variability is discussed in detail in this paper. We also underline several aspects for the anticipatory guidance of affected individuals, especially recommending a neurologic evaluation taking into account the radiologic findings in order to plan early interventions to avoid undesirable consequences of craniosynostosis. It is also recommended to perform additional studies (ophthalmologic, cardiologic, among others) to rule out the existence of associated anomalies, which are more frequent than previously considered.
authors.affiliation: ECEMC, CIAC, Instituto de Salud Carlos III, Madrid, Spain. eva.bermejo@isciii.es
authors.forename: Eva
authors.initials: E
authors.lastname: Bermejo
authors.forename: Valentín
authors.initials: V
authors.lastname: Félix
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.forename: Enrique
authors.initials: E
authors.lastname: Galán
authors.forename: Virginia
authors.initials: V
authors.lastname: Soler
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.forename: Angel
authors.initials: A
authors.lastname: Pantoja
authors.forename: María-Dolores
authors.initials: MD
authors.lastname: Márquez
authors.forename: Marta
authors.initials: M
authors.lastname: García
authors.forename: Emiliano
authors.initials: E
authors.lastname: Mora
authors.forename: Lourdes
authors.initials: L
authors.lastname: Cuevas
authors.forename: Alicia
authors.initials: A
authors.lastname: Ureta
authors.forename: Isidora
authors.initials: I
authors.lastname: López-Pajares
authors.forename: María-Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics / Q000473:pathology*; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D013030:Spain; D013577:Syndrome