RESUMO
Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.
Assuntos
Síndrome de Waardenburg/diagnóstico , Síndrome de Waardenburg/genética , Criança , Surdez/diagnóstico , Surdez/genética , Feminino , Humanos , Linhagem , Síndrome de Waardenburg/classificaçãoRESUMO
A family is reported in which, in one generation, there are more members with goitres and nerve deafness than expected. It is postulated that these abnormalities are due to Pendred's Syndrome and the reasons for this are discussed. An associated finding in three goitrous patients is tuberculoid leprosy.