Franceschini P, Licata D, Guala A, Di Cara G, Signorile F, Franceschini D, Genitori L, Restagno G
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università di Torino, Turin, Italy.
Am J Med Genet. 1998 Dec 4;80(4):303-8.
We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.
我们报告了一对可能患有巴莱-杰罗尔德综合征（BGS）的单卵双胞胎。双胞胎A患有严重的冠状缝早闭。双胞胎B患有右桡尺骨和同侧第一掌骨发育不全。两人均有双侧第五指屈曲指。假设这对双胞胎确实是单卵双胞胎，那么单一的遗传疾病（即BGS）可以解释这种可变的表现。这对双胞胎共同具有BGS的典型异常。掌指轮廓（MPP）支持了诊断，该检查证实双胞胎A的右第一掌骨发育不全，且两人均有双侧第五指短中节指骨。此外，MPP显示第一掌骨意外异常延长（双胞胎A为单侧，双胞胎B为双侧），这是BGS中以前未被发现的桡骨射线缺陷。这些发现提示MPP可能有助于识别BGS的轻症病例，如那些明显孤立的颅缝早闭或孤立的上肢缺陷病例。
