Introduction

Multiple congenital anomalies (MCAs) are defined as two or more unrelated major structural malformations that cannot be explained by an underlying syndrome or sequence [1]. Approximately 3 million fetuses and infants are born each year with major malformations[2].An estimated 303 000 newborns die within 4 weeks of birth every year, worldwide, due to congenital anomalies[3]. The exact etiology of MCA is unidentified but genetic, infectious, nutritional, and environmental causes are accused [2, 3].

Case presentation

A 24 years old, Gravida 3 para 0, women not in labour presented to the Obstetrics and Gynecology department at 28+4 weeks of pregnancy. She has history of abortion in previous 1st and 2nd pregnancies due to cervical incompetence at 8 weeks and 12 weeks respectively. The cervical cerclage was done in the past 5 months, no history of medication use or illness, nor family history of congenital anomalies neither known exposure to teratogens.

During admission she was complaining of not feeling the fetal movement in the last 5 hours and PV leakage time amount. In the prenatal check up after ultrasound scan the parents were informed that; non viable fetus has abnormalities (hydrocephalus and phocomelia). The cervical cerclage was removed and labour induction was done per intrauterine fetal death ( IUFD) hospital protocol.

A Fresh still born baby (FSB) through assisted breech delivery was born without any complications. Postnatal examination of newborn revealed multiple congenital anomalies including hydrocephalus, Down syndrome, phocomelia, ectrodactyl, ambigous genitalia and some signs of Klipel-Feil syndrome. Further investigations of internal organs, genetic and chromosomal investigations were not done due to limitations of resources at the hospital and family financial constraints.

Figure 1 Clinical picture of a newborn front view

Figure 2 Clinical picture of a newborn side view

Discussion

Table 1 Physical description of diagnosed syndromes

The causes of congenital malformations are divided into four broad categories, genetics, environmental, multifactorial and unknown [2]. 50% of congenital malformation are linked to unknown causes, this case is inclusive [3].The birth of an infant with MCAs generates difficult multiple medical, surgical, ethical, psychosocial, and physical issues for patients and parents. Because MCA is rare and few cases has been reported, no much information available[10]. The management need supportive treatment with multidisplinary team of neonatologists, geneticist, cardiologists, radiologists, physical therapist and psychologist [10].

The world Health organization recommends introduction of surveillance program and teams for follow up of preventive public health measures work to decrease frequency of MCAs through elimination of risk factors or reinforcement of protective factors and adoption of preconception and periconception medical genetic screening and counseling [3].

Conclusion

This case is extremely rare and few information about management are available in the literature, psychological counseling to the parents was done successfully in the present case. However, Early and precise diagnosis of a child with multiple congenital anomalies is important for management, genetic counseling concerning etiology, recurrence risk, prenatal diagnosis, screening and recommendation for evaluation of other family members.1, 2, 3, 4, 5, 6, 7, 8, 9, 10

References

  1. Congenital anomalies 2015.
  2. Centers for Disease Control (CDC) Prevention Facts about Down Syndrome Center on Birth Defects and Developmental Disabilities..
  3. Study of congenital malformations in infants and children in Menoufia governorate, Egypt AbouEl-Ella Soheir S., Tawfik Maha A., Abo El-Fotoh Wafaa Moustafa M., Elbadawi Mai A.. Egyptian Journal of Medical Human Genetics.2018;19(4):359-365.
  4. The definition and classification of hydrocephalus: a personal recommendation to stimulate debate Rekate Harold L. Cerebrospinal Fluid Research.2008;5(1).
  5. Ambiguous genitalia–A social dilemma in Bangladesh: A case report Chowdhury Mohiuddin Ahsanul Kabir, Anwar Rashidul, Saha Arnab. International Journal of Surgery Case Reports.2018;42:98-101.
  6. Phocomelia: case report of a rare congenital disorder Dar IshratH, Dar MohammedI, Farooq Omar, Mir SamiaR. Egyptian Journal of Dermatology and Venerology.2015;35(2):82-82.
  7. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child Moerman P, Fryns J P. American Journal of Medical Genetics Part A.1998;63(3):479-81.
  8. Green's Operative Hand Surgery Kay Simon P, Mccombe David, Green, David P.. Philadelphia: Elsevier/ Churchill Livingstone; 2005.
  9. Multiple congenital anomalies after assisted reproductive technology in Japan Ooki S. Epidemiology..
  10. Newborn With Multiple Congenital Anomalies Seshadri Sheshashree, Ojadi Vallier. NeoReviews.2014;15:e260-e263.