论文部分内容阅读
本文报导两例智力停滞的同胞伴有相同的异常(矢状缝早闭,复杂的心血管畸形,下颌关节强硬)及各种畸形,其自然病史尚不清楚,唯一特征为遗传异质性,提示可能系一种新的单基因遗传综合征。病例例1,JM810602,为两个相同罹患同胞之第1例。母于孕早期时阴道流血。妊42周行剖腹产娩出,Apgar评分为5/3/5,体重3050g,身长51cm,头围34.5cm。因不能吮奶、吞咽,先天性心脏病(CHD)及多发畸形入院。检查发现矢状缝早闭及长头畸形、眼距过宽、斜视、低位发育异常的双耳,
This article reports two cases of siblings with mental retardation with the same abnormalities (early sagittal suture, complex cardiovascular malformations, mandibular joint stiffness) and various deformities. The natural history is unclear, the only characteristic is the genetic heterogeneity, Tip may be a new type of single-gene syndrome. Case 1, JM810602, was the first of two identical siblings. Female vaginal bleeding in early pregnancy. Pregnancy 42 weeks of caesarean section delivery, Apgar score 5/3/5, weight 3050g, length 51cm, head circumference 34.5cm. Because they can not suck milk, swallowing, congenital heart disease (CHD) and multiple deformities admission. Check found that sagittal suture and head deformity, oculomotor hyperextension, strabismus, low developmental abnormalities of both ears,