Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other
Journal
Journal of the Formosan Medical Association
Journal Volume
102
Journal Issue
7
Pages
506-509
Date Issued
2003
Author(s)
Abstract
Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atreric 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 pre-axial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk 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 that 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.
SDGs
Other Subjects
age; anencephalus; article; atresia; case report; cervical spine; childbirth; chromosome aberration; clinical feature; cryptorchism; death; diagnostic imaging; disease association; disease severity; dysraphism; early diagnosis; genetic heterogeneity; gestational age; hair; human; Klippel Feil syndrome; male; meningocele; monozygotic twins; neck; neural tube defect; polydactyly; prenatal diagnosis; preschool child; rehabilitation; scoliosis; spine injury; spine malformation; thoracic spine; thumb malformation; treatment planning; vertebra; walking; Adult; Anencephaly; Diagnosis, Differential; Female; Humans; Infant, Newborn; Klippel-Feil Syndrome; Magnetic Resonance Imaging; Male; Meningocele; Pregnancy; Twins, Monozygotic
Type
journal article