Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.
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.
D000328:Adult; D000757:Anencephaly / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007714:Klippel-Feil Syndrome / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000175:diagnosis* / Q000473:pathology; D011247:Pregnancy; D014430:Twins, Monozygotic