Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report

被引:0
作者
Wilfred, Zakaria Ismail [1 ]
Magitta, Ng'weina Francis [1 ,2 ]
机构
[1] Univ Dodoma, Sch Med & Dent, Dept Internal Med, Dodoma, Tanzania
[2] Univ Dar Es Salaam, Mbeya Coll Hlth & Allied Sci, Dept Biochem & Clin Pharmacol, Mbeya, Tanzania
关键词
Antenatal care; Congenital malformation; Embryonic caudal region; Mermaid syndrome; Sirenomelia; ACID; DEFECTS; CYP26A1; ENZYMES;
D O I
10.1186/s13256-024-04549-5
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background Sirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life.Case presentation We present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.Conclusion Sirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.
引用
收藏
页数:5
相关论文
共 50 条
[21]   First Trimester Diagnosis of Sirenomelia: A Case Report [J].
Satarkar, Shilpa .
JOURNAL OF FETAL MEDICINE, 2019, 6 (02) :103-105
[22]   Prenatal diagnosis of cleft lip and cleft lip palate - a case series [J].
Marginean, Claudiu ;
Sasaran, Vladut ;
Marginean, Cristina Oana ;
Melit, Lorena Elena ;
Marginean, Maria Oana .
MEDICAL ULTRASONOGRAPHY, 2018, 20 (04) :531-535
[23]   Sirenomelia in a monoamniotic twin - A case report [J].
Akl, MN ;
Saleh, AA .
JOURNAL OF REPRODUCTIVE MEDICINE, 2006, 51 (02) :138-140
[24]   Sirenomelia in twin pregnancy A case report and literature review [J].
Xu, Tingting ;
Wang, Xiaodong ;
Luo, Hong ;
Yu, Haiyan .
MEDICINE, 2018, 97 (51)
[25]   Sirenomelia and situs inversus: Case report and review of the literature [J].
Langer, B ;
Stoll, C ;
Nicolau, R ;
Gasser, B ;
Schlaeder, G .
FETAL DIAGNOSIS AND THERAPY, 1996, 11 (01) :79-84
[26]   Sirenomelia- A rare congenital anomaly: Case report [J].
Thombare, Dipanjali ;
Dixit, Prachi ;
Chavan, Ankit ;
Najan, Ashwini .
JOURNAL OF EDUCATION AND HEALTH PROMOTION, 2023, 12 (01) :248
[27]   Sirenomelia with upper limb malformation: a case report and review of the literature [J].
Su, D. ;
Yao, Q. .
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2015, 42 (04) :537-539
[28]   Impact of Prenatal Care on Newborn Complications for Infants with Cleft Lip with or Without Cleft Palate [J].
Loomis-Goltl, Evy ;
Briley, Patrick ;
Kotlarek, Katelyn J. J. .
CLEFT PALATE CRANIOFACIAL JOURNAL, 2024, 61 (06) :1041-1051
[29]   Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity [J].
Taee, Nadereh ;
Tarhani, Fariba ;
Goodarzi, Mojgan Faraji ;
Safdari, Mohammad ;
Bajelan, Amir .
AJP REPORTS, 2018, 8 (04) :E328-E331
[30]   Sirenomelia associated with an anterior abdominal wall defect: a case report [J].
Eric Kambale Kavunga ;
Gabriel Kambale Bunduki ;
Mupenzi Mumbere ;
Claude Kasereka Masumbuko .
Journal of Medical Case Reports, 13