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

-

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

Kaynakça

1. Cohen MM, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD et al. Birth prevalence study of the Apert syndrome. Am J Med Genet 1992; 42(5):655–9.
2. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 1995; 9(2): 165–72.
3. Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13(1):48–53.
4. Cohen MM , Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet 1993; 45(6): 758–60.
5. Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C et al. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 1995; 57(2): 321–8.
6. Kan S, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2002; 70(2): 472–86. Chen CP, Lin SP, Su YN, Chen CY, Tsai FJ, Liu YP et al. [Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester]. Taiwan J Obstet Gynecol 2010; 49(2): 231-4
7. Kaplan LC. Clinical assessment and multispeciality management of Apert syndrome. Clin Plast Surg 1991; 18(2): 217–225.