Hinkel G K, Tolkendorf E, Bergan J
Abteilung, Klinische Genetik der Medizinischen Akademie Dresden, DDR.
Monatsschr Kinderheilkd. 1988 Dec;136(12):824-7.
A similar pattern of dysmorphic features and congenital malformations was found in two infants, one with a larger terminal deletion of 7p13-pter and the other with a smaller interstitial deletion of 7p13-p15. The more prominent features of the syndrome include plagioturricephaly (which is caused by premature asymmetric closure of the frontal and coronal sutures), osseous defects of the parietal bones, short fingers, proximally implanted thumbs (in both), microphthalmia, congenital heart defect, and hydronephrosis (one). In addition, both patients revealed intrauterine and postnatal growth retardation and pronounced mental deficits.
在两名婴儿中发现了类似的畸形特征和先天性畸形模式，一名婴儿有较大的7p13 - pter末端缺失，另一名婴儿有较小的7p13 - p15间质缺失。该综合征更突出的特征包括斜头畸形（由额缝和冠状缝过早不对称闭合引起）、顶骨骨缺损、手指短小、拇指近位植入（两人均有）、小眼症、先天性心脏缺陷和肾积水（一人）。此外，两名患者均表现出宫内和出生后生长发育迟缓以及明显的智力缺陷。
