Lopes P, Talmant C, Cohen J Y, Mouzard A, Nomballais M F, Boiffard J P, Lerat M F
J Genet Hum. 1985 Sep;33(3-4):347-55.
Camptodactyly and pulmonary hypoplasia syndrome was described for the first time in 1974. Today 15 cases have been found. None were subject to a prenatal diagnosis as any ultrasonography. The case we observe is a 27 years old woman, third gestation, showing a polyhydramnios at 25 weeks of gestation. The ultrasonographic examination showed deformation with a rounded abdomen, a narrow thoracic frame slightly concave, no gastric picture and hands in constant flexion. After elimination of the V.A.T.E.R.' syndrome the camptodactyly's syndrome with pulmonary hypoplasia was proposed. Because of the lethal character of this syndrome, the abortion was realised. The photos of the fetus were the same as the ultrasonographic pictures during the prenatal diagnosis. The absence of intrinsic (paralysis) or extrinsic (compression) movements of the fetus is very important in the genesis of "deformations". The severity of the deformities depends on the importance of akinesia.
屈曲指及肺发育不全综合征于1974年首次被描述。如今已发现15例。此前无一例通过超声检查进行产前诊断。我们观察的病例是一名27岁女性,第三次妊娠,孕25周时出现羊水过多。超声检查显示腹部呈圆形变形、胸廓狭窄且稍凹陷、未见胃影像以及双手持续屈曲。排除VATER综合征后,考虑为屈曲指综合征合并肺发育不全。由于该综合征具有致死性,遂实施了引产。胎儿的照片与产前诊断时的超声图像一致。胎儿缺乏内在(麻痹)或外在(压迫)运动在“变形”的发生过程中非常重要。畸形的严重程度取决于运动不能的程度。