Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word thanatophorus meaning death bringing. Thanatophoric dysplasia results from mutations within the Fibroblast Growth Factor Receptor 3 (FGFR3) gene which is located on chromosome 4p16.3. A female neonate with dysmorphic features such as macrocephaly, frontal bossing, periorbital swelling and depressed nasal bridge was delivered to a 35year old woman. The upper and lower limbs were short with excessive skin folds. A case of female neonate with thanatophoric dysplasia is hereby reported to raise awareness of this condition and to describe the features of thanatophoric dysplasia seen in this patient . Key words: Thanatophoric Dysplasia (TD), Fibroblast Growth Factor Receptor 3 Gene (FGFR3), dysmorphic, macrocephaly
Background: Sexual assault is a term that includes various types of forced or inappropriate sexual activity. Children are increasingly becoming victims with most cases not reported due to the fear of stigmatization. The study was done to determine the prevalence and describe the pattern of sexual assault among children attending the Children outpatient unit of a tertiary hospital. Patient, Materials and Methods: This was a retrospective study of cases of sexual assault among children who presented at the Children outpatient unit of Alex Ekwueme Federal University Teaching Hospital, Abakaliki between September 1, 2016, and August 31, 2018. Cases of sexual assault were identified from the hospital records. Relevant data were extracted from the case files of the affected children and entered into a profoma. Data were analyzed using SPSS version 22. Results: A total of 10,400 children aged 1–18 years attended the Children outpatient unit during the study period, 78 (0.8%) of these children were cases of sexual assault. There were 74 (94.9%) females and 4 (5.1%) were males. The mean age of cases was 8.95 ± 4.78 years. School-aged children had the highest case of sexual assault, the most common type of sexual assault was rape. Abdominal pain was the most common presenting complaint and the perpetrator was known to the victims in 58 (74.4%) of cases, while 25.6% of the perpetrators are strangers. Conclusion: Rape is the commonest type of sexual assault in this study and in most cases, the perpetrators were known to the victims.
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