Background: Congenital malformations (CM) are significant causes of childhood morbidity and mortality impacting negatively on the affected family’s emotional and financial life. It also results in an enormous burden on a nation’s health and socio-economic systems. However, few studies on CM have emanated from developing countries including Nigeria and specifically from Yenagoa, Bayelsa State which is located in the oil rich Niger Delta region. We therefore analyzed the prevalence, pattern and outcome of management of babies with CM seen at the Neonatal unit (SCBU) of the Federal Medical Centre, Yenagoa. This could be used as evidence for policy makers to develop and implement CM surveillance, prevention and supportive programs. Methods: This was a descriptive observational study of all neonates with CM admitted into the Special Care Baby Unit (SCBU) over a one year period from 1st February 2017 to 31st January 2018. Identification and confirmation of congenital anomalies was done by physical examination, diagnostic investigations and surgical interventions. The conditions were classified organ and system-wise except for the chromosomal abnormalities. The prevalence and pattern of defects were determined, while factors related to the outcome of the anomalies were calculated with odds ratio and 95% confidence interval. Data entry and analysis were performed using excel and SPSS version 22. Results: Among the 502 newborn admissions during the study period, congenital anomalies were found in 61 newborns, giving a prevalence rate of 12.2% with a female preponderance of 55.7%. The commonest CM were those related to the cardiovascular system (47.5%) followed by the digestive system (32.8%) then musculoskeletal system (19.7%). The mean duration of care was 9.7± 9.0 days with mortality of 30.5% recorded at that period. Babies with CM affecting the cardiovascular system and chromosomal anomalies were less likely to survive although these relationships were not statistically significant (p > 0.05). However, duration of care showed a statistically significant relationship with outcome as babies who spent one day and less in the neonatal unit  had  reduced odds of a favourable outcome (OR – 0.07). An increased odd of survival (OR – 2.09) was seen in babies with only one congenital birth defect. Conclusion: A high prevalence of Congenital malformations in newborns was demonstrated in this study. This has highlighted the need for a well-designed surveillance, prevention and supportive hospital, State and National programme for affected babies and their families.

Thanatophoric dysplasia is a rare congenital severe skeletal disorder previously considered lethal but some survivals beyond the neonatal period have been reported due to extensive medical interventions. There have been a few studies on thanatophoric dysplasia in Africa and specifically in Nigeria hence this case report of an 8-day old female who was born with clinical features that were consistent with thanatophoric dysplasia creating awareness in this region. An eight-day old female term neonate who was seen in the special care baby unit with respiratory distress and limb abnormalities from birth. Two obstetric ultrasound scans had revealed a fetus with severe limb deformity. At presentation, she was in respiratory distress, with dysmorphic features, small chest wall with chest hypertelorism. The limbs were short having marks of amniotic bands with lymphoedema affecting both lower limbs. There were no palmar creases. Skeletal survey done revealed marked hypoplasia of the chest cavity, and widening of both proximal and distal epiphyses of all long bones showing telephone receiving appearance. Echocardiography and abdominal ultrasound scans were normal. It was documented that thanatophoric dysplasia was inherited in an autosomal dominant fashion however sporadic mutations do occur as seen in this patient who had no family history. Facility for genetic testing to analyse the fibroblast growth factor receptor (FGFR3) for typing and determining possible mutations was not available to confirm the diagnosis however, her clinical features and radiological findings were suggestive of thanotophoric dysplasia type 1.

Introduction: VACTERL association is a rare congenital defect. It is a constellation of the involvement of six systems which comprise of vertebral defects, anal atresia, cardiac defects, trachea-oesophageal fistula, renal anomalies and limb abnormalities.  At least three systems should be involved before VACTERL is suspected and in many cases, it is difficult to differentiate it from other multiple congenital anomalies. Case Report: We present a day old preterm neonate who presented with respiratory distress and abdominal distension at birth. Late pregnancy ultrasound done at 34 weeks gestation showed a singleton fetus with gross ascites, dilated urinary bladder and bilateral calyceal dilatation. On examination, he had hyper-plantar flexion of the left ankle joint, ascites and a loud systolic murmur. Abdominal scan showed bilateral renal stones with medullary sponge kidneys, gaseous distension of the bowels and massive ascites. Transthoracic echocardiography showed a 10 mm ostium secundum atrial septal defect, 6 mm perimembranous ventricular septal defect and a 3 mm patent ductus arteriosus. Micturating cystourography showed a dilated posterior urethra with an appearance of a ring lucent filling defect at the membranous urethra and an irregular and beading distal urethra which was suggestive of posterior urethral valves (diaphragmatic type). Conclusion: VACTERL association occurs sporadically in most cases and presentation is varied depending on the degree of systemic affectation. Our patient presented with a constellation of congenital defects which could all fit into the criteria for VACTERL association, however because of the lack of genetic testing, it is difficult to determine if this is just a chance occurrence of multiple congenital anomalies.