We describe a harmonic and normotonic newborn, with peculiar facies characterized by broad nasal rooth, hypoplastic nasal alae and dystopia canthorum (increased distance between the inner canthi: cm 3, 97° percentile), associated with white medio-frontal forelock with methopic hypochromia. The shape of the mother's eyes, similar to her son's, associated with bilateral hearing loss, premature greying of the hair (at 20 years of age) and vitiligo, induced us to evaluate the child's otoacoustic emissions, which resulted in severe bilateral hearing loss. The physical examination was otherwise normal. Given the presence of the characteristic facial phenotype, associated with deafness and pigmentary anomalies in mother and son, a diagnosis of Waardenburg Syndrome was made. This condition is autosomic dominant. Audiologic follow-up is suggested.
ATEROSCLEROSI / Bosco, Giovanna; Giglioni, E.. - 1°(2005), pp. 503-504.
ATEROSCLEROSI
BOSCO, Giovanna;
2005
Abstract
We describe a harmonic and normotonic newborn, with peculiar facies characterized by broad nasal rooth, hypoplastic nasal alae and dystopia canthorum (increased distance between the inner canthi: cm 3, 97° percentile), associated with white medio-frontal forelock with methopic hypochromia. The shape of the mother's eyes, similar to her son's, associated with bilateral hearing loss, premature greying of the hair (at 20 years of age) and vitiligo, induced us to evaluate the child's otoacoustic emissions, which resulted in severe bilateral hearing loss. The physical examination was otherwise normal. Given the presence of the characteristic facial phenotype, associated with deafness and pigmentary anomalies in mother and son, a diagnosis of Waardenburg Syndrome was made. This condition is autosomic dominant. Audiologic follow-up is suggested.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
