Hattori H, Okuno T, Momoi T, Kataoka K, Mikawa H, Shiota K
Department of Pediatrics, Kyoto University Medical School, Japan.
Am J Med Genet. 1987 Oct;28(2):483-7. doi: 10.1002/ajmg.1320280226.
A holoprosencephalic child was born to a mother with a single central maxillary incisor. The infant had a median cleft lip, a flat nose with a single nostril, hypotelorism, and normal chromosomes. The head was brachycephalic and small, and computed tomography (CT) of the brain showed semilobar holoprosencephaly. The mother had mild hypotelorism but no anosmia, and her brain CT was normal. She was of normal intelligence and stature. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. Whether the mother's anomaly was a new mutation or had been inherited is unknown. We show the significance of a single central maxillary incisor as an indicator or potential holoprosencephaly in the next generation, even if other relatives are apparently normal.
一名患有全前脑畸形的儿童出生于一位有一颗上颌中切牙的母亲。该婴儿患有正中唇裂、鼻扁平且只有一个鼻孔、眼距过窄，染色体正常。头部短头畸形且小，脑部计算机断层扫描（CT）显示为半脑叶型全前脑畸形。母亲有轻度眼距过窄但无嗅觉缺失，她的脑部CT正常。她智力和身高正常。其他亲属没有上颌中切牙缺失、眼距过窄或口腔裂隙。母亲的异常是新突变还是遗传而来尚不清楚。我们表明，即使其他亲属明显正常，上颌中切牙缺失作为下一代潜在全前脑畸形的一个指标具有重要意义。
