RESUMO
Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case. Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.
RESUMO
AIMS: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome. METHODS: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded. All neonates were followed up till discharge or death. RESULTS: A total of 239 consecutive neonates were enrolled in the study representing 5.7% of all admitted infants. Maternal risk factors were present in 26% of neonates admitted. Sex-ratio was 1.46. Preterm infants represented 24% of transported babies. Seventeen percent of neonates had severe respiratory distress and 10% had hemodynamic troubles. Referred hospital was not informed in 24% of cases. Regarding the transport mode, 113 newborns (47.5%) were transported in ambulance accompanied by a nurse. Documentation during transfert was present in 14% of cases. Five babies expired on arrival despite resuscitation. Rate mortality was 8.4%. CONCLUSION: Transporting neonates in developing countries is a challenge. Organized transport services in Tunisia are not always available. So, in cases of at-risk pregnancy, it is safer to transport the mother prior to delivery than to transfer the sick baby after birth.