RESUMEN
A black American infant presented with typical findings of femoral hypoplasia--unusual facies syndrome, chromosome X trisomy in cultured lymphocytes, and a family history of mirognathia among first- and second-degree maternal relatives. It is postulated that micrognathia may lie at one end of the multigenic phenotypic spectrum which at its opposite end includes the above syndrome. The presence of X trisomy in this infant suggests that concordance between this chromosomal anomaly and variable points of the syndrome's phenotypic spectrum should be sought in other families.
Asunto(s)
Fémur/anomalías , Síndrome de Pierre Robin/genética , Trisomía , Femenino , Humanos , Recién Nacido , Aberraciones Cromosómicas Sexuales , Cromosoma XRESUMEN
Choanal atresia in a neonate is a cause of severe respiratory distress and constitutes a respiratory emergency. The authors present a case of choanal atresia and emphasize the ease of making the diagnosis both radiologically and clinically.