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.

A newborn with dystopia cantorum and white forelock / Tarani, Luigi; M. C., Tozzi; Colloridi, Fiorenza; R., Infussi; Pasquino, Anna Maria. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1720-8424. - STAMPA. - 30:(2004), pp. 272-274.

A newborn with dystopia cantorum and white forelock

TARANI, Luigi;COLLORIDI, Fiorenza;PASQUINO, Anna Maria
2004

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.
2004
01 Pubblicazione su rivista::01a Articolo in rivista
A newborn with dystopia cantorum and white forelock / Tarani, Luigi; M. C., Tozzi; Colloridi, Fiorenza; R., Infussi; Pasquino, Anna Maria. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1720-8424. - STAMPA. - 30:(2004), pp. 272-274.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/354068
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