Prenatal diagnosis of hypochondroplasia: Three-dimensional multislice computed tomography findings and molecular analysis

Fetal Diagnosis and Therapy

Volumn 21, Issue 1, 2005, Pages 18-21

  Bonnefoy, O ^a   Delbosc, J M ^b   Maugey Laulom, B ^c   Lacombe, D ^c   Gaye, D ^c   Diard, F ^c  

^a HÔPITAL DU BOCAGE   (France)

^b Hopital Bagatelle   (France)

^c HÔPITAL PELLEGRIN   (France)

Author keywords

Fibroblast growth factor receptor 3 gene; Hypochondroplasia; Multislice computed tomography imaging; Prenatal diagnosis

Indexed keywords

FIBROBLAST GROWTH FACTOR;

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; FETUS; HUMAN; HUMERUS; HYPOCHONDROPLASIA; MACROCEPHALY; NUCLEOTIDE SEQUENCE; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKELETON MALFORMATION; THREE DIMENSIONAL IMAGING; TIME SERIES ANALYSIS;

DNA MUTATIONAL ANALYSIS; DWARFISM; FEMALE; FETUS; HUMANS; IMAGING, THREE-DIMENSIONAL; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; TOMOGRAPHY, X-RAY COMPUTED;

EID: 29144433464     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000089042     Document Type: Article

References (18)

1. Maroteaux P, Falzon P: Hypochondroplasia: revue de 80 cas [French]. Arch Fr Pediatr 1998;45:105-109.
2. Bellus GA, McIntosh I, Szabo J, Aylsworth A, Kaitila I, Francomano CA: Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene. Ann NY Acad Sci 1996;785:182-187.
3. Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M: Clinical and genetic heterogeneity of hypochondroplasia. J Med Genet 1996;33:749-752.
4. Prinster C, Del Maschio M, Beluffi G, Maghnie M, Weber G, Del Maschio A, Chiumello G: Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. Pediatr Radiol 2001;31:203-208.
5. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-342.
6. Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK: Hypochondroplasia. Am J Dis Child 1971;122:95-104.
7. Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P: A common FGFR3 gene mutation in hypochondroplasia. Hum Mol Genet 1995;4:2097-2101.
8. Specht EE, Daentl DL: Hypochondroplasia. Clin Orthop 1975;110:249-255.
9. Newman DE, Dunbar JC: Hypochondroplasia. J Can Assoc Radiol 1975;26:95-103.
10. Achondroplasia; in Nyberg DA, Mc Gahan JP, Pretorius DH, Pilu G (eds): Diagnostic Imaging of Fetal anomalies. Philadelphia, Lippincott Williams and Wilkins 2003, pp 679-682.
11. Weldner BM, Persson PH, Ivarsson SA: Prenatal diagnosis of dwarfism by ultrasound screening. Arch Dis Child 1985;60:1070-1072.
12. Jones SM, Robinson LK, Sperrazza R: Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. Am J Med Genet 1990;36:404-407.
13. Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ: Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. Am J Med Genet 1999;87:226-229.
14. Kataoka S, Sawai H, Yamada H, Kanazawa N, Koyama K, Nishimura G, Morikawa M, Sakuragi N, Minakami H: Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period. Prenat Diagn 2004;24:45-49.
15. Garjian KV, Pretorius DH, Budorick NE, Cantrell CJ, Johnson DD, Nelson TR: Fetal skeletal dysplasia: three-dimensional US - initial experience. Radiology 2000;214:717-723.
16. Moeglin D, Benoit B: Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. Ultrasound Obstet Gynecol 2001;18:81-83.
17. Sohda S, Hamada H, Oki A, Iwasaki M, Kubo T: Diagnosis of fetal anomalies by three-dimensional imaging using helical computed tomography. Prenat Diagn 1997;17:670-674.
18. Ebina Y, Yamada H, Kato EH, Tanuma F, Shimada S, Cho K, Fujimoto S: Prenatal diagnosis of agnathia-holoprosencephaly: three-dimensional imaging by helical computed tomography. Prenat Diagn 2001;21:68-71.