Prenatal diagnosis of Apert syndrome: a case report

Abstract

Abstract

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and symmetric cutaneous and bony syndactily of the limbs. We report a rare case of Apert syndrome with cloverleaf skull deformity, prenatally diagnosed at 20 weeks' gestation in which the ultrasonographic features of a characteristic trilobed skull shape, abnormal biparietal diameter and head circumference, as well as malformations of the all extremities confirmed the diagnosis. Our case demonstrates the possibility of prenatal diagnosis of Apert syndrome with cloverleaf skull using ultrasound.

Keywords: Craniosynostosis, Apert syndrome, syndactily, prenatal diagnosis

Özet

Apert sendromu, kraniosinositoz,midfasial hipoplazi ve ekstremitelerde simetrik kutenöz ve kemik sindaktili ile karakterizedir. Bu makalede nadir görülen bir sendrom olan Apert Sendromunun 20. haftada yapıln detaylı ultrasonografik değerlendirmede saptanan trilobule kafa şekli, anormal biparietal çap ve kafa çevresi e aynı zamanda belirlenen ekstremite malformasyonları ile konulan tanısından bahsedilmektedir.

Anahtar sözcükler: Kraniosinostozis, Apert sendromu, sindaktili, prenatal tanı

Keywords

• Craniosynostosis, Apert syndrome, syndactily, prenatal diagnosis

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Öz

Apert sendromu, kraniosinositoz,midfasial hipoplazi ve ekstremitelerde simetrik kutenöz ve kemik sindaktili ile karakterizedir. Bu makalede nadir görülen bir sendrom olan Apert Sendromunun 20. haftada yapıln detaylı ultrasonografik değerlendirmede saptanan trilobule kafa şekli, anormal biparietal çap ve kafa çevresi e aynı zamanda belirlenen ekstremite malformasyonları ile konulan tanısından bahsedilmektedir.

Anahtar Kelimeler

• Kraniosinostozis, Apert sendromu, sindaktili, prenatal tanı

References

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