全前脑畸形与轴后多指畸形且染色体正常。一种新的畸形综合征的另一例观察；病例报告。
Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.
作者信息
Ramaekers P R, Legius E, Verloes A, Gillerot Y, Vandenberghe K, Fryns J P
机构信息
Obstetrics Department, St. Annakliniek, Beringen, Belgium.
出版信息
Eur J Obstet Gynecol Reprod Biol. 1990 Jul-Aug;36(1-2):161-5. doi: 10.1016/0028-2243(90)90062-6.
A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprung's disease and survival till the age of 13 weeks. Chromosomal analysis on lymphocytes was normal. Up to now, three other patients with this malformation complex have been described. Together with the present patient, they are apparently the first examples of a new malformation syndrome.
一名患有半叶前脑无裂畸形、单鼻孔的无脑畸形、上唇正中假性裂隙、轴后多指畸形、生殖器发育不全、先天性巨结肠症且存活至13周龄的男婴被报道。淋巴细胞染色体分析正常。截至目前，另外三名患有这种畸形综合征的患者也已被描述。连同本病例患者一起，他们显然是一种新的畸形综合征的首例病例。
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