Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Abstract

Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Casereport: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.

Clinical Findings of 2-Months-Old Baby With Apert Syndrome: A Rare Case Report

“…Craniosynostosis happened because of mutation in gene fibroblast growth factor receptors (FGFR2) which can also happen in other diseases like Crouzon Syndrome, Pfeiffer Syndrome, Beare-Stevenson Syndrome, and Jackson-Weiss Syndrome. 1,3,4 Craniosynostosis can be the only abnormalities who are present, or accompanied by other. AS is a rare autosomal dominant disorder which more than 98% cases happened in de novo mutation.…”

“…The cause of this mutation is transmitted through paternalchromosome, hence, increasing age of father in the time of conception may be one of many factors which increase the risk of AS occurrence. 1,5,6 Other contributing factors in AS are viral infection during pregnancy, intake of certain drugs during pregnancy, inflammation, and disruption of the formation of the skeletal. 7,8 Prenatal diagnosis of AS depends on ultrasound during pregnancy with findings of head-shape abnormalities including closure of coronal suture, midfacial hypoplasia, and syndactyly in fingers and toes.…”

“…7,8 Prenatal diagnosis of AS depends on ultrasound during pregnancy with findings of head-shape abnormalities including closure of coronal suture, midfacial hypoplasia, and syndactyly in fingers and toes. 1,9 Diagnosis can be acquired through clinical presentation and gene mapping to confirm the outcome of physical examination. AS has almost the same symptoms as Crouzon Syndrome.…”

“…In this case, gene mapping of FGFR2 gene are not carried out because of the cost limitations from the patient's side, but this workup is essential in diagnosing Apert Syndrome. 1 Complications that can occur in the manner of late diagnosing including disturbance in the brain's growth, mental retardation, worsen facial deformity, prognathic mandible, and else. Surgical options for syndactyly are usually intended for cosmetic purpose but are irrelevant in improving function in a meaningful way.…”

“…Advance paternal age has been suspected as the risk factor contributing in the incidence rate of AS. 1 Apert Syndrome is a congenital disorder characterized by craniosynostosis (early closure of coronal suture), prominent forehead, hypertelorism (abnormally increased distance between the eyes), proptosis, strabismus in some patients, midface hypoplasia, low set ears and defect in the formation of ear structure, cleft palate which is responsible for the difficulty of food intake which can increase the risk of choking, syndactyly of fingers and toes. The abnormality can also happen in the central nervous system including hydrocephalus and ventriculomegaly.…”