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Apert syndrome - clinical case.

Mirela Anişoara Siminel1, Cristian Ovidiu NeamŢu, Damian DiŢescu

  • 1Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, Clinical Laboratory, "Filantropia" Municipal Hospital, Craiova, Romania; simona_0712@yahoo.com.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
|May 20, 2017
PubMed
Summary

Apert syndrome, a rare genetic disorder, presents with craniostenosis and syndactyly. Prenatal diagnosis is challenging, with symptoms often appearing in the third trimester.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Obstetrics

Background:

  • Apert syndrome (acrocephalosyndactyly) is a rare autosomal dominant disorder affecting approximately 1 in 65,000 newborns.

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  • Key features include craniostenosis, midface hypoplasia, and syndactyly of the hands and feet.
  • Prenatal diagnosis can be difficult, with characteristic dysmorphic signs often manifesting in the third trimester.