Exstrophy Of Cloaca Sequence (OEIS Complex) With Multiple Cardiac Malformations

Omphalocele, Exstrophy, Imperforate anus, Spinal defects (OEIS) complex is the most severe birth defect within the exstrophy-epispadias complex. There is exstrophy of the cloaca, failure of fusion of the genital tubercles and pubic rami, omphalocele and incomplete development of the lumbosacral vertebrae with hydromyelia. The diagnosis of OEIS complex mainly relies on sonographic findings. Our case presented with microcephaly, omphalocele, syndactyly, hydromyelia, imperforate anus, single cloacal opening, bifid clitoris, prominent unfused pubic rami and left renal agenesis. In addition, multiple severe cardiac malformations were found on echocardiography. Prognosis is poor when the OEIS complex is compounded by life-threatening malformations. We report a rare case of a preterm neonate presenting with features of OEIS complex with multiple cardiac malformations

Bohring Opitz Syndrome: A Case Of A Rare Genetic Disorder

Bohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, developmental delay, microcephaly, micrognathia, limb anomalies, and typical phenotypic facial features. The cause of the syndrome is identified as de novoheterogeneous mutations in the ASXL1 gene, but other mutations have been described in some patients. Most patients die in early childhood due to infections and comorbidities. As molecular confirmation by genetic studies is not always possible, this syndrome is diagnosed on the basis of distinctive clinical features. We report a case of the 6-month-old male child having gastroesophageal reflux and physical features of microcephaly, sloping forehead, sparse hair, craniosynostosis, telecanthus, hypertelorism, prominent eyes, posteriorly rotated ears, high-arched palate, micrognathia, pes planus, and typical BOS posture. A multidisciplinary approach is required for managing these patients.