Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.
We describe two siblings with epiphora, telecanthus, expressionless face, thick facial skin, bulky nose and profound sensorineural hearing loss. Constellation of these features presented a phenotypic overlap with Blepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition had posterior helical pits. The molecular basis of NMLS is known, while BNFS remains an elusive disorder. We report the first Indian family with features having significant overlap between the two but we attempt to summarize the frequency of reported features and bring out the most consistent features for these two syndromes for the treating clinician.
Department of Ophthalmology, Maulana Azad Medical College, New Delhi, India.
Manav
M
Sachdev
Anju
A
Rastogi
Ankur
A
Singh
Kamlesh
K
Kumar
Seema
S
Kapoor
Yuvika
Y
Bansal
Shilpa
S
Goel
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010641:Phenotype; D035781:Siblings; D013577:Syndrome