A Case of Prenatally Diagnosed Apert syndrome.
- Author:
So Young KWON
1
;
Jin Suk CHUNG
;
Jin Ho JEONG
;
Jin Beum JANG
;
Ji Hyeun PARK
;
Kwang Koog KIM
;
Sang Won PARK
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Apert syndrome;
Acrocephalosyndactyly;
Ultrasonogram
- MeSH:
Acrocephalosyndactylia*;
Congenital Abnormalities;
Craniosynostoses;
Female;
Foot;
Hand;
Humans;
Intellectual Disability;
Pregnancy;
Pregnancy Trimester, Third;
Prenatal Diagnosis;
Receptors, Fibroblast Growth Factor;
Syndactyly;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2002;45(7):1268-1272
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Apert syndrome or acrocephalosyndactyly is a rare developmental deformity with a sporadic or autosomal dominant trait characterized by coronal craniosynostosis, midface hypoplasia, exorbitism, typical symmetrical syndactyly of both hands and feet with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor receptor type-2 (FGFT2) gene. In the absence of family history, prenatal diagnosis may be difficult based on ultrasonographic findings alone. The original description was presented by Apert in 1906 with nine cases. Since then more than 200 cases have been reported in the world. We report a case of Apert syndrome diagnosed prenatally by ultrasonogram in the third trimester and subsequently was terminated, with a brief review of prenatal sonographic findings in 11cases reported in literature.
