Waardenburg syndrome.
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.
Tagra
Sunita
S
Departments of Dermatology, Government Medical College, Patiala, Punjab, India. sunitatagra@yahoo.com.
Talwar
Amrita Kaur
AK
Walia
Rattan Lal Singh
RL
Sidhu
Puneet
P
D002648:Child; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*