A PRENATALLY DIAGNOSED CASE OF SIRENOMELIA WITH POLYDACTYLY AND VESTIGIAL TAIL

被引:2
作者
Guven, M. A. [2 ]
Uzel, M. [3 ]
Ceylaner, S. [1 ]
Coskun, A. [2 ]
Ceylaner, G. [1 ]
Gungoren, A. [4 ]
机构
[1] Intergen Genet Ctr, Ankara, Turkey
[2] Kahramanmaras Sutcu Imam Univ, Dept Obstet & Gynecol, Kahramanmaras, Turkey
[3] Kahramanmaras Sutcu Imam Univ, Dept Orthoped Surg, Kahramanmaras, Turkey
[4] Mustafa Kemal Univ, Dept Obstet & Gynecol, Antakya, Turkey
来源
GENETIC COUNSELING | 2008年 / 19卷 / 04期
关键词
Sirenomelia; Prenatal diagnosis; Vestigial tail; Polydactyly;
D O I
暂无
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail: We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs. tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature, However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.
引用
收藏
页码:419 / 424
页数:6
相关论文
共 18 条
[1]   The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures [J].
Abu-Abed, S ;
Dollé, P ;
Metzger, D ;
Beckett, B ;
Chambon, P ;
Petkovich, M .
GENES & DEVELOPMENT, 2001, 15 (02) :226-240
[2]  
Bila V, 1996, FOLIA BIOL-PRAGUE, V42, P167
[3]   First-trimester diagnosis of sirenomelia -: A case report [J].
Carbillon, L ;
Seince, N ;
Largillière, C ;
Bucourt, M ;
Uzan, M .
FETAL DIAGNOSIS AND THERAPY, 2001, 16 (05) :284-288
[4]  
Lituania M, 1996, MALFORMAZIONI CRANIO, P23
[5]   SIRENOMELIA - CASE OF THE SURVIVING MERMAID [J].
MURPHY, JJ ;
FRASER, GC ;
BLAIR, GK .
JOURNAL OF PEDIATRIC SURGERY, 1992, 27 (10) :1265-1268
[6]  
Nyberg DA, 1989, DIAGNOSTIC ULTRASOUN, P187
[7]   MAJOR LIMB MALFORMATIONS FOLLOWING INTRAUTERINE EXPOSURE TO ETHANOL - 2 ADDITIONAL CASES AND LITERATURE-REVIEW [J].
PAULI, RM ;
FELDMAN, PF .
TERATOLOGY, 1986, 33 (03) :273-280
[8]   The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo [J].
Sakai, Y ;
Meno, C ;
Fujii, H ;
Nishino, J ;
Shiratori, H ;
Saijoh, Y ;
Rossant, J ;
Hamada, H .
GENES & DEVELOPMENT, 2001, 15 (02) :213-225
[9]   Sirenomelia, the mermaid syndrome -: detection in the first trimester [J].
Schiesser, M ;
Holzgreve, W ;
Lapaire, O ;
Willi, N ;
Lüthi, H ;
Lopez, R ;
Tercanli, S .
PRENATAL DIAGNOSIS, 2003, 23 (06) :493-495
[10]   Sirenomelia sequence versus renal agenesis: prenatal differentiation with power Doppler ultrasound [J].
Sepulveda, W ;
Corral, E ;
Sanchez, J ;
Carstens, E ;
Schnapp, C .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1998, 11 (06) :445-449