Nance W E, Warburg M, Bixler D, Helveston E M
Birth Defects Orig Artic Ser. 1974;10(4):285-91.
An investigation of a family with congenital X-linked cataracts, microcorneas, supernumerary incisors, anteverted pinnae and shortened metacarpals is presented. The carriers had posterior sutural opacities and cone-shaped teeth. There have been four previously reported families with X-linked cataracts, one of which also presented microcorneas. Four other families have been reported with X-linked cataracts, microphthalmia and somatic and mental anomalies. Linkage studies could be used to demonstrate whether these diseases result from allelic or nonallelic genes but were uniformative in the present family.
本文报告了一个患有先天性X连锁白内障、小角膜、多生切牙、耳廓前倾和掌骨缩短的家族。携带者有后缝合线混浊和锥形牙。此前已有4个报道的家族患有X连锁白内障，其中一个家族还伴有小角膜。另有4个家族报道患有X连锁白内障、小眼症以及躯体和精神异常。连锁研究可用于证明这些疾病是由等位基因还是非等位基因引起的，但对本家族无诊断意义。
