| Abstract | 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. |
| Authors | Pei-Chun Chan, Wu-Shiun Hsieh, Steven S F Peng
(Affiliation: Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, National Taiwan University, Taipei, Taiwan.)
|
| Journal | Journal of the Formosan Medical Association = Taiwan yi zhi
(J Formos Med Assoc)
Vol. 102
Issue 7
Pg. 506-9
(Jul 2003)
ISSN: 0929-6646 China (Republic: 1949- ) |
| PMID | 14517591
(Publication Type: Case Reports, Journal Article)
|
| Topics |
- Adult
- Anencephaly
(diagnosis, pathology)
- Diagnosis, Differential
- Female
- Humans
- Infant, Newborn
- Klippel-Feil Syndrome
(diagnosis, pathology)
- Magnetic Resonance Imaging
- Male
- Meningocele
(diagnosis, pathology)
- Pregnancy
- Twins, Monozygotic
|
