Verly Hosea, Andi Dwi Bahagia Febriani, Ema Alasiry
Background: Pfeiffer Syndrome (PS) is a rare autosomal dominantly inherited disorder with craniofacial syndrome originally de?ned by craniosynostosis, broad thumbs and great toes and partial variable soft tissue syndactyly of hands and feet, affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, ventriculomegaly, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia. Objective: To report a case of pfeiffer syndrome with respiratory distress of the newborn in 2 days old baby Case: A 2 days old baby girl was admitted to the NICU because of dyspnea since 2 hours before admission without history of cyanosis, fever, and seizure. Birth weight and birth length was 3000 gram and 46 cm. Physical examination revealed a minimal subcostal retraction with increased of respiration rate. The downe’s score was 2. She was found to have proptosis, hypertelorism, low-set ears, brachycephaly, broad big toes and thumbs, midface hypoplasia, palatochisis.. Inability to pass a nasogastric tube due to choanal atresia. Radiological examination with CT Head Scan revealed brachycephalic skull, craniosynostosis, and ventriculomegaly. Chest x ray revealed bronchopneumonia. Laboratory examination revealed anemia and blood smear showed signs of infection. Patient was treated with oxygen, antibiotics and be planned for ventriculoperitoneal shunt. Conclusion: A case of pfeiffer syndrome with respiratory distress of the newborn in 2 days old baby girl has been reported. The diagnosis was based on history taking, physical examination, laboratory and radiological finding. The prognosis in this patients is dubia ad malam.