Prasad C, Quackenbush E J, Whiteman D, Korf B
Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Am J Med Genet. 1997 Jan 20;68(2):179-81. doi: 10.1002/(sici)1096-8628(19970120)68:2<179::aid-ajmg11>3.0.co;2-r.
Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies.
肢体异常在迪乔治综合征或CHARGE综合征中并不常见。我们描述了两名患有肢体异常的儿童，一名患有迪乔治综合征，另一名患有CHARGE综合征。我们的首例患者有左手拇指裂、法洛四联症、胸腺缺失、右侧面神经麻痹以及T细胞数量减少。通过荧光原位杂交（FISH）检测到22q11缺失。第二名患有CHARGE综合征的患者有不对称表现，包括右手小指弯曲、屈曲指、胫骨半侧发育不全及皮肤凹陷，还有严重的马蹄内翻足。迪乔治综合征和CHARGE综合征的扩展谱系包括肢体异常。
