Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome

Ultrasound in Obstetrics and Gynecology

Volumn 13, Issue 4, 1999, Pages 274-280

  Pooh, R K ^a   Nakagawa, V ^a   Pooh, K H ^b   Nakagawa, Y ^b   Nagamachi, N ^a  

^a National Hospital Organization   (Japan)

^b National Hospital Organization   (Japan)

Author keywords

Apert syndrome; Fetal profile; Intracranial morphology; Prenatal diagnosis; Ultrasound

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ACROCEPHALOSYNDACTYLY; ADULT; ARTICLE; BRAIN; BRAIN SCINTISCANNING; CALVARIA; CASE REPORT; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DNA DETERMINATION; FACIES; FEMALE; FETUS; FETUS ECHOGRAPHY; FOOT MALFORMATION; FRONTAL BOSSING; GENE MUTATION; HAND MALFORMATION; HISTORY; HUMAN; HYPOPLASIA; KARYOTYPE; LATERAL BRAIN VENTRICLE; MORPHOLOGY; NEWBORN; NOSE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDACTYLY; TRANSVAGINAL ECHOGRAPHY; UTERUS;

ACROCEPHALOSYNDACTYLIA; ADULT; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; FEMALE; FETAL DISEASES; FOLLOW-UP STUDIES; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; PREGNANCY; PREGNANCY OUTCOME; ULTRASONOGRAPHY, PRENATAL;

EID: 0032992079     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.1999.13040274.x     Document Type: Article

References (15)

1. 1. Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, Roeper P, Martimez-Frias ML. Birth prevalence study of the Apert syndrome. Am J Med Genet 1992;42:655-9
2. 2. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 1995;9:165-72
3. 3. Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 1995;57:321-8
4. 4. Slaney SF, Oldridge M, Hurst JA, Morriss-Kay GM, Hall CM, Poole MD, Wilkie AOM. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:923-32
5. 5. Bernstein PS, Gross SJ, Cohen DJ, Tiller GR, Shanske AL, Bombard AT, Marion RW. Prenatal diagnosis of type 2 Pfeiffer syndrome. Ultrasound Obstet Gynecol 1996;8:425-8
6. 6. Leonard CO, Daikoku NH, Winn K. Prenatal fetoscopic diagnosis of the Apert syndrome. Am J Med Genet 1982;11:5-9
7. 7. Kim H, Uppal V, Wallach R. Apert syndrome and fetal hydrocephaly. Hum Genet 1986;73:93-5
8. 8. Hill LM, Thomas ML, Peterson CS. The ultrasonic detection of Apert syndrome. J Ultrasound Med 1987;6:601-4
9. 9. Narayan H, Scott IV. Short communication: prenatal diagnosis of Apert's syndrome. Prenat Diagn 1991;10:187-92
10. 10. Chenoweth-Mitchell C, Cohen GR. Prenatal sonographic findings of Apert syndrome. J Clin Ultrasound 1994;22: 510-14
11. 11. Parent P, Le Gren H, Mundk MR, Thoma M. Apert syndrome, an antenatal ultrasound detected case. Genet Couns 1994;5:297-301
12. 12. Kaufmann K, Baldinger S, Pratt L. Ultrasound detection of Apert syndrome: a case report and literature review. Am J Perinatol 1997;14:427-30
13. 13. Filkins K, Russo JF, Boehmer S, Camous M, Przylepa KA, Jiang W, Jabs EW. Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. Prenat Diagn 1997;17:1081-4
14. 14. Cohen MM Jr, Kreiborg S. Suture formation, premature sutural fusion and suture default zones in Apert syndrome. Am J Med Genet 1996;62:339-44
15. 15. Cohen MM Jr, Kreiborg S. The central nervous system in the Apert syndrome. Am J Hum Genet 1990;35:36-45