RESUMEN
To date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have been considered distinct disorders, but they share strikingly similar patterns of congenital abnormalities, specifically craniofacial anomalies. While recent research has led to the identification of the genes FRAS1 and FREM2 as the cause of FS, the genetic basis of AMS continues to be enigmatic. We report on the concurrence of AMS-like and Fraser phenotypes in a Brazilian family. Both affected sibs were homozygous for a novel splice site mutation in the FRAS1 gene. Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS. We conclude that a phenotype resembling AMS is a rare clinical expression of FS with no obvious genotype-phenotype correlation. However, the molecular basis of "true" AMS which has been reported as a sporadic disorder in all cases but one, and so far with no relation to FS, is probably different and still needs to be further investigated.
Asunto(s)
Anomalías Craneofaciales/genética , Proteínas de la Matriz Extracelular/genética , Macrostomía/complicaciones , Anomalías Múltiples/genética , Femenino , Humanos , Recién Nacido , Macrostomía/genética , Masculino , Mutación , Fenotipo , MortinatoAsunto(s)
Anomalías Múltiples , Anomalías del Ojo/cirugía , Párpados/anomalías , Párpados/cirugía , Macrostomía/complicaciones , Oído/anomalías , Pestañas/anomalías , Pestañas/cirugía , Párpados/anatomía & histología , Femenino , Genitales Femeninos/anomalías , Hernia Umbilical/genética , Hernia Umbilical/cirugía , Humanos , Recién Nacido , Anomalías Cutáneas/complicaciones , SíndromeRESUMEN
The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo, redundant skin, and vertical shortening of all eyelids. Only four cases have been described so far. In these cases the nature of the eyelid anomalies has not been clearly defined. We report one more case showing that the condition is better described as a severe microblepharon because only the anterior lamella of the eyelids is shortened. The literature about this condition is reviewed, and oculoplastic treatment is discussed.
Asunto(s)
Enfermedades de los Párpados/congénito , Párpados/anomalías , Macrostomía/complicaciones , Adolescente , Adulto , Cejas/anomalías , Pestañas/anomalías , Enfermedades de los Párpados/cirugía , Párpados/cirugía , Femenino , Humanos , Recién Nacido , Masculino , Cirugía Plástica , Colgajos Quirúrgicos , SíndromeRESUMEN
We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.