Professional paper

Apert syndrome - case report

Marko Čičak ; Opća i veteranska bolnica "Hrvatski ponos" Knin, Odjel za ginekologiju i porodništvo
Nada Kljajić ; Opća i veteranska bolnica "Hrvatski ponos" Knin, Odjel za pedijatriju
Eugenio Stoini ; Opća i veteranska bolnica "Hrvatski ponos" Knin, Odjel za pedijatriju
Stipe Krezo ; Opća i veteranska bolnica "Hrvatski ponos" Knin, Odjel za ginekologiju i porodništvo
Boris Begović ; Opća i veteranska bolnica "Hrvatski ponos" Knin, Odjel za ginekologiju i porodništvo

Abstract

The Apert syndrome is an autosomal dominant inherited disease. This syndrome was first described by the French physician Eugène Charles Apert in 1906. It is characterized by craniosynostosis and fused fingers and toes (sindactilia). In addition, there are other physical disorders, such as central nervous system malformations, cleft palate, atresia hoàn, mental retardation and others. The disease is caused by genetic disorders of point mutation type in FGFR2 gene. These mutations correlate with the age of the father and family burdens. The frequency is 1/80645 live births. In the maternity ward of General Hospital "Hrvatski ponos" in Knin a pregnant woman gave birth to a second child at 38 + 2 weeks. The infant’s birth weight was 3200 g, birth length 52 cm. with Apert syndrome. The newborn female had a neat (46XX) karyotype. The child had a brachycephalic head, badly modeled earlobes, egzoftalmic eyeball, saddle nose, cleft hard and soft palate. Hipertrophycus clitoris and sindactily of fingers and toes. CBC and biochemical findings in the normal range. MRI: voluminous tank cerebelomedularis which broadly communicates with IV brain ventricle, reduced enteric-posterior diameter of the posterior fossa. Cleft soft and hard palate. Agenesis of the septum pellucidum and very gracile corpus callosum, choanal atresia. As for the diagnosis of this syndrome, it can be diagnosed by antenatal, three dimensional ultrasound after 20 weeks of pregnancy and MR. Treatment is aimed at preventing complications. Craniotomy allows satisfactory growth and brain development. The separation of the fingers and toes grown together returns the function of the hands and feet and enables walking.

Keywords

Apert syndrome; craniosynostosis; syndactyly

Hrčak ID:

167280

URI

https://hrcak.srce.hr/167280

Publication date:

30.9.2016.

Article data in other languages: croatian

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