Dinulos M B, Pagon R A
Division of Medical Genetics, Department of Pediatrics, University of Washington School of Medicine and Children's Hospital and Regional Medical Center, Seattle, Washington 98105-0371, USA.
Am J Med Genet. 1999 Sep 3;86(1):54-6. doi: 10.1002/(sici)1096-8628(19990903)86:1<54::aid-ajmg10>3.0.co;2-2.
We report on a mother-to-son transmission of the Barber-Say syndrome, a finding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin of our patients are consistent with the findings of five reported cases. The mother also had cleft palate and mild conductive hearing loss. Her son had a shawl scrotum, primary hypospadias, and mild hearing loss by report. The inheritance of this rare disorder has not been established. The parent-to-child transmission in this family suggests X-linked or autosomal dominant inheritance. The parents of the patient reported by Santana et al. [1993: Am. J. Med. Genet. 47:20-23] were consanguineous, suggesting autosomal recessive inheritance in other cases.
我们报告了一例Barber-Say综合征的母传子病例，这一发现有力地支持了这种罕见疾病的显性遗传。我们患者典型的面部改变、小耳、多毛症和多余皮肤与已报道的5例病例的发现一致。母亲还患有腭裂和轻度传导性听力损失。据报告，她的儿子有阴囊悬垂、原发性尿道下裂和轻度听力损失。这种罕见疾病的遗传方式尚未确定。这个家族中的亲子传递提示X连锁或常染色体显性遗传。桑塔纳等人[1993年：《美国医学遗传学杂志》47:20 - 23]报告的患者的父母是近亲结婚，提示其他病例可能为常染色体隐性遗传。
