Barber-Say syndrome in a father and daughter.
We report on a father to daughter transmission of Barber-Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach.
Roche
Nathalie
N
Department of Plastic and Reconstructive Surgery, University Hospital, Gent, Belgium. nathalie.roche@ugent.be
Houtmeyers
Philippe
P
Janssens
Sandra
S
Blondeel
Philllip
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001284:Atrophy; D002648:Child; D005128:Eye Diseases / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D007621:Karyotyping; D008265:Macrostomia / Q000235:genetics; D008297:Male; D009666:Nose / Q000002:abnormalities; D012867:Skin / Q000473:pathology; D013577:Syndrome