Chan Pei-Chun, Hsieh Wu-Shiun, Peng Steven S F
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, National Taiwan University, Taipei, Taiwan.
J Formos Med Assoc. 2003 Jul;102(7):506-9.
Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atretic meningocele in one identical twin and anencephaly in the other. These identical twins were both male with no chromosome defect. One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk at the age of 15 months. Both of these infants had preaxial polydactyly, which is an uncommon anomaly associated with KFS. In conclusion, iniencephaly and anencephaly are probably the extreme manifestations of KFS rather than different dysraphisms. Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation.
克-费综合征（KFS）是一种异质性疾病，其特征为颈椎节段性的特定先天性异常。我们报告了一对同卵双胞胎的病例，其中一个患有KFS合并闭锁性脑脊膜膨出，另一个患有无脑儿。这对同卵双胞胎均为男性，无染色体缺陷。其中一个在孕17周时被诊断为无脑儿，出生后不久死亡，而另一个双胞胎患有KFS，伴有多种先天性异常，包括低发际线短颈、枕部闭锁性脑脊膜膨出、蝴蝶椎、半椎体、颈胸段脊柱侧弯、左手拇指轴前多指畸形以及右侧隐睾。他在婴儿期接受了康复治疗，15个月时能够行走。这两个婴儿均患有轴前多指畸形，这是一种与KFS相关的罕见异常。总之，无脑后凸和无脑儿可能是KFS的极端表现，而非不同的神经管闭合不全。对于进一步的干预和康复，必须及时进行临床怀疑，并对脊柱病变和神经管隐性开口进行早期诊断性影像学检查。
