నైరూప్య

Congenital Malformations: Report of 5 Rare Cases Seen in 20 Years (1994-2014) in Cameroon and Review of Literature

Enow Orock GE

We report 5 rare congenital malformations found in 20 years of practice (1994-2014) in our service amongst 3 females and 2 males. Multisystem malformations involve more than one system and are rare. We found a case of amelia (lower limb) associated with gastroschisis, congenital bilateral polycystic kidneys, unilateral uterine adnexal agenesis fortuitously discovered in an adult and a congenital huge haemangioma of the nasal tip and dorsum giving a ‘clown nose deformity’. Most spectacularly, we describe a foetus born with extra oral location of all organs of the gastrointestinal tract enclosed in a thin transparent membrane. To the best of our knowledge this condition has not been described before and so we decided to call it ‘entero-oro exogenesis’ and ascribe to it the eponym ‘Enow Orock syndrome’ in reference to the pathologist who first described it. In all our cases, no etiological factor could be attributed to any of the conditions due largely to lack of collaboration from the affected families and logistic challenges. The only recurring risk factor that was common to all our cases was a low socioeconomic status of parents of the patients. Malformations are not rare in our community. The absence of a congenital malformation registry makes data on the disease difficult to obtain in Cameroon. We recommend that a national registry for the condition be created and public education intensified on birth defects in our community.