Neonatal appendicitis is a rare condition with high mortality rate. Signs and symptoms are often nonspecific, imaging modalities are not always diagnostic, and preoperative diagnosis is difficult with subsequent delay and complications. Its pathophysiology may be different from appendicitis in older children and comorbidities can be found. We report a case of a female neonate with Patau's syndr...

BACKGROUND Duodenal atresia is a common cause of intestinal obstruction in neonates. It is associated with other congenital anomalies like Down's syndrome, annular pancreas etc. CASE PRESENTATION We present a case of a two days old male baby presented to us with bilious vomiting since birth. It was associated with Down's syndrome, Annular pancreas and Malrotation. CONCLUSION Duodenal atresi...

The femoral-facial syndrome is a very rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and a peculiar facies. We report an additional observation detected by ultrasound at 25 weeks and diagnosed at birth. In addition to the malformations usually described in this syndrome, there were heterotopias of the brain, partial agenesis of the corpus callosum, bilo...

We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical fin...