Seller M J, Pal K, Moscoso G, Nicolaides K, Hyett J A
South Thames (East) Regional Genetics Centre, Guy's Hospital, London, UK.
Clin Dysmorphol. 1998 Jan;7(1):41-4.
Three female sibs had cerebellar hypoplasia, facial dysmorphism comprising a high forehead, lowset posteriorly rotated ears, a prominent upper lip and receding chin, and variable internal abnormalities. Two of the cases had deficient lobulation of the lungs, two had an atrial septal defect of the heart and developmental abnormalities of the urinary system or internal genitalia, one had holoprosencephaly. All had normal chromosomes. This syndrome does not seem to have been reported before and may be inherited in an autosomal recessive manner.
三名女性同胞患有小脑发育不全、面部畸形，包括高额、低位后旋耳、上唇突出和下巴后缩，以及各种内部异常。其中两例肺部小叶形成不足，两例患有房间隔缺损以及泌尿系统或内生殖器发育异常，一例患有前脑无裂畸形。所有患者染色体均正常。这种综合征似乎以前未曾有过报道，可能以常染色体隐性方式遗传。
