Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly

Fetal and Pediatric Pathology

Volumn 29, Issue 4, 2010, Pages 207-211

  Kamnasaran, Deepak ^a   Morin, Françoise ^b   Gekas, Jean ^c  

^a UNIVERSITÉ LAVAL   (Canada)

^b LAVAL UNIVERSITY   (Canada)

^c Centre de Recherche du CHUQ HSFA   (Canada)

Author keywords

craniofacial abnormalities; genes; MeSH; prenatal diagnosis

Indexed keywords

DNA; MEMBRANE PROTEIN; OTX2 PROTEIN, HUMAN; PGAP1 PROTEIN, HUMAN; PHOSPHATASE; TRANSCRIPTION FACTOR OTX;

AGNATHIA OTOCEPHALY; ARTICLE; BODY HEIGHT; BRANCHIAL DEFECT; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; FACE MALFORMATION; FAMILY HISTORY; FEMALE; FETUS; GENE MUTATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HUMAN TISSUE; HYPOPLASIA; KARYOTYPE; MOLECULAR GENETICS; OROPHARYNX; PALPEBRAL FISSURE ANOMALY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ULTRASOUND; UNIPARENTAL DISOMY; ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; COMPUTER ASSISTED TOMOGRAPHY; EAR; FATALITY; FETUS ECHOGRAPHY; GENETICS; GENOTYPE; MALE; MAXILLOFACIAL ABNORMALITIES; MUTATION; NUCLEOTIDE SEQUENCE; PREGNANCY; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; DNA MUTATIONAL ANALYSIS; EAR; FATAL OUTCOME; FEMALE; GENOTYPE; GESTATIONAL AGE; HUMANS; MALE; MAXILLOFACIAL ABNORMALITIES; MEMBRANE PROTEINS; MUTATION; OTX TRANSCRIPTION FACTORS; PHOSPHORIC MONOESTER HYDROLASES; PREGNANCY; PRENATAL DIAGNOSIS; TOMOGRAPHY, X-RAY COMPUTED; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 77954549877     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513811003796946     Document Type: Article

References (13)

1. Ducarme G, Largilliere C, Amarenco B, Davitian C, Bucourt M, Vazquez MP, Uzan M, Carbillon L. Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly. Prenat Diagn. 27(5):481-483, 2007.
2. Umekawa T, Sugiyama T, Yokochi A, Suga S, Uchida K, Sagawa N. A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography. Prenat Diagn. 27(7):679-681, 2007.
3. Rajan PV, Wing DA, Bocian M, McKeown A. Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). Prenat Diagn. 27(2):130-132, 2007.
4. Ibba RM, Zoppi MA, Floris M, Putzolu M, Monni G, Todde PF, Sardu G. Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations. Am J Med Genet. 28;90(5):427-429, 2000.
5. Khan A, Bourgeois J, Mohide P. Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate. Clin Dysmorphol. 17(1):75-76, 2008.
6. Hersh JH, McChane RH, Rosenberg EM, Powers WH Jr, Corrigan C, Pancratz L. Otocephaly-midline malformation association. Am J Med Genet. 34(2):246-249, 1989.
7. Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong SL, Kalousek DK, Robinson WP. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat Diagn. 21(1):36-39, 2001.
8. Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW. Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders. Hum Mutat. 27(2):133-137, 2006.
9. Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ,Mellerio JE, McGrath JA. Completematernal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol. 126(9):2039-2043, 2006.
10. Matsuo I, Kuratani S, Kimura C, Takeda N, Aizawa S. Mouse Otx2 functions in the formation and patterning of rostral head. Genes Dev. 9(21):2646-2658, 1995.
11. Kamnasaran D, Cox DW. Current status of human chromosome 14. J Med Genet. 39(2):81-90, 2002.
12. Ueda Y, et al. PGAP1 knock-out mice show otocephaly and male infertility. J Biol Chem. 282(42):30373-30380, 2007.
13. Grosso S, Pucci L, Curatolo P, Coppola G, Bartalini G, Di Bartolo R, Scarinci R, Renieri A, Balestri P. Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review. Epilepsy Res. 79(1):63-70, 2008.