Background: Marfan-Like syndrome is a congenital pathology that does not meet all Marfan syndrome criteria. Describing its phenotype allows us to make a diagnosis of suspicion.

Case description. Authors expose the clinical manifestations observed in a girl with a mutation in the COL5A1 gene not described at the present time. These alterations are muscular hypotonia and articular hypermobility, attention deficit, scoliosis, flat feet valgus, elongated and myopathic facies, antimongoloid slant, detached atrial pavilions, mild exophthalmos and bilateral ptosis, astigmatism, cleft palate, micrognathia, compressed palate, dental crowding, early emergence and altered sequence of eruption in both dentitions.

Conclusions. Clinical diagnosis of suspicion is based on the clinical findings, hence the importance of the knowledge of them to implement precociously an effective treatment in the stomatological area.

L. Burgueño Torres. Departamento de Especialidades Clínicas Odontológicas. Facultad de Odontología. Universidad Complutense de Madrid.
Plaza Ramón y Cajal, 3 (Ciudad Universitaria). 28040 Madrid. Correo electrónico: lbtorres@ucm.es

Congenital contractural arachnodactyly (Beals syndrome) is a rare autosomal dominant disorder caused by mutation in fibrillin 2 (FBN2) gene that is phenotypically similar to, but less severe than, Marfan syndrome. It is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple joint contractures, hypoplasia of calf muscles, crumpled ears and congenital heart disease. With time, there is spontaneous improvement in joint contractures, but kyphoscoliosis tends to be progressive. We describe the case of a child with Beals syndrome and review the literature.