RESUMEN
Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.
Asunto(s)
Anomalías Múltiples/genética , Factores de Crecimiento de Fibroblastos/metabolismo , Mutación , Transducción de Señal , Femenino , Humanos , Masculino , Linaje , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , SíndromeRESUMEN
OBJECT: Recurrent laryngeal nerve (RLN) palsy is a well-known complication of cervical spine surgery. Nearly all previous studies were performed without laryngoscopy in asymptomatic patients. This prospective study was undertaken to discern the true incidence of RLN palsy. Because not every RLN palsy is associated with hoarseness, the authors conducted a prospective study involving the use of pre- and postoperative laryngoscopy. METHODS: Prior to anterior cervical spine surgery preoperative indirect laryngoscopy was performed in 123 patients to evaluate the status of the vocal cords as a sign of function of the RLN. To assess postoperative status in 120 patients laryngoscopy was repeated, and in cases of vocal cord malfunction follow-up examination was conducted 3 months later. In the group of 120 patients who attended follow-up examination, two (1.6%) had experienced a preoperative RLN palsy without hoarseness. Postoperatively the rate of clinically symptomatic RLN palsy was 8.3%, and the incidence of RLN palsy not associated with hoarseness (that is, clinically unapparent without laryngoscopy) was 15.9% (overall incidence 24.2%). At 3-month follow-up evaluation the rate had decreased to 2.5% in cases with hoarseness and 10.8% without hoarseness. Thus, the overall rate of early persisting RLN palsy was 11.3%. CONCLUSIONS: Laryngoscopy revealed that the true incidence of initial and persisting RLN palsy after anterior cervical spine surgery was much higher than anticipated. Especially in cases without hoarseness this could be proven, but the initial incidence of hoarseness was higher than expected. Only one third of new RLN palsy cases could be detected without laryngoscopy. Resolution of hoarseness was approximately 70% in those with preoperative hoarseness. The true rate of RLN palsy underscores the necessity to reevaluate the surgery- and intubation-related techniques for anterior cervical spine surgery and to reassess the degree of presurgical patient counseling.