title: Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome.
abstract: We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance. To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome.
authors.affiliation: Department of Pathology and Molecular Medicine and Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Corporation and McMaster University, Hamilton, Canada. nowaczyk@fhs.mmcmaster.ca
authors.forename: M J
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: T L
authors.initials: TL
authors.lastname: Sutcliffe
mesh_terms: D016569:Blepharophimosis / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D013577:Syndrome