RESUMO
We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel-Giedion syndrome, and Rudiger syndrome.
Assuntos
Anormalidades Craniofaciais/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Hérnias Diafragmáticas Congênitas , Deficiência Intelectual/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Unhas Malformadas/diagnóstico , Hibridização Genômica Comparativa , Anormalidades Craniofaciais/genética , Fácies , Evolução Fatal , Feminino , Deformidades Congênitas da Mão/genética , Perda Auditiva Neurossensorial/genética , Hérnia Diafragmática/diagnóstico , Hérnia Diafragmática/genética , Humanos , Ilhas do Oceano Índico , Lactente , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/genética , Masculino , Unhas Malformadas/genética , FenótipoRESUMO
The correct choice of intra vascular access in critically ill neonates should be individualized depending on the type and duration of therapy, gestational and chronological age, weight and/or size, diagnosis, clinical status, and venous system patency. Accordingly, there is an ongoing demand for optimization of catheterization. Recently, the use of ultrasound (US)-guided cannulation of the subclavian vein (SCV) has been described in children and neonates. This article gives an overview of the current use of US for achieving central venous catheter placement in the SCV or the brachiocephalic vein (BCV) in neonates. More than 1,250 catheters have been reported inserted in children and neonates for a cumulated success rate of 98.4% and the complication rate is reported to be low. The technical aspects of various approaches are discussed, and we offer our recommendation of an US-guided technique for SCV and BCV cannulation based on our experience in a large NICU setting. Although the cannulation the SCV or BCV does not substitute the use of peripherally inserted central catheters or umbilical venous central catheters in neonates, it is a feasible route in very small children who are in need of a large caliber central venous access.