Holmes Lewis B, Nasri Hanah Z
Medical Genetics and Metabolism Unit, Mass General for Children, Boston, Massachusetts, USA.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A. 2022 Nov;188(11):3236-3241. doi: 10.1002/ajmg.a.62941. Epub 2022 Sep 8.
The term symbrachydactyly has been used for the phenotype of two or three short fingers or toes, hypoplasia of the middle and distal phalanges and variable syndactyly of the affected digits. Some clinicians have extended this diagnosis to include other phenotypes, specifically cleft hand, terminal transverse limb defects, hypoplasia of the thumb and fifth finger with nubbins for fingers 2, 3, and 4 and the hand deformity of the Poland anomaly. A malformations surveillance program can identify enough affected infants to characterize a phenotype. In the Active Malformations Surveillance Program in Boston (1972-2012) among 289,365 births, all infants and fetuses with structural abnormalities were identified from reading the examination findings by the pediatricians and pathologists and the results of diagnostic tests. Liveborn and stillborn infants were included, as well as fetuses from elective terminations because of anomalies identified in prenatal testing. We present the findings in 14 infants, all liveborn, who had symbrachydactyly of one or both hands (n = 12) or feet (n = 2). We suggest restricting the term symbrachydactyly to this single phenotype to improve counseling and to focus future research on identifying the cause(s).
“短指并指畸形”一词用于描述两三个短手指或短脚趾、中节和远节指骨发育不全以及受累手指不同程度并指的表型。一些临床医生将这一诊断范围扩大到包括其他表型，特别是裂手、肢体末端横向缺损、拇指和小指发育不全以及第2、3、4指呈残端状，还有波兰综合征的手部畸形。一个畸形监测项目能够识别出足够数量的患病婴儿以对一种表型进行特征描述。在波士顿的主动畸形监测项目（1972 - 2012年）中，在289,365例出生病例中，所有结构异常的婴儿和胎儿是通过儿科医生和病理学家阅读检查结果以及诊断测试结果来识别的。活产和死产婴儿均被纳入，因产前检查发现异常而选择性终止妊娠的胎儿也包括在内。我们展示了14例婴儿的研究结果，这些婴儿均为活产，他们一只手或双手（n = 12）或一只脚或双脚（n = 2）患有短指并指畸形。我们建议将“短指并指畸形”一词限定为这单一表型，以改善咨询服务，并使未来的研究聚焦于确定病因。
