[小头畸形伴眼皮肤白化病和手指异常的家族综合征]
[Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies].
作者信息
Castro-Gago M, Pombo M, Novo I, Tojo R, Peña J
出版信息
An Esp Pediatr. 1983 Aug;19(2):128-31.
PMID:6660641
Abstract
Authors make a report concerning a male patient who presents microcephaly, oculocutaneus albinism, hypoplasia of the distal phalanx of the 1st, 3rd and 4th finger of the right hand, 1st, 3rd, 4th and 5th finger of the left hand and agenesia of the distal end of the big toe of the right foot. They think it is a new dysmorphic syndrome. Because of patient's sister presented a similar picture they suggest that it may be an autosomal recessive inheritance pattern.
摘要
作者报告了一名男性患者，该患者患有小头畸形、眼皮肤白化病、右手第1、3和4指、左手第1、3、4和5指远端指骨发育不全以及右脚大脚趾远端发育不全。他们认为这是一种新的畸形综合征。由于患者的姐姐有类似表现，他们推测这可能是常染色体隐性遗传模式。
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