Klippel-Feil Syndrome (KFS) is a complex, congenital condition, originally described by Maurice Klippel and Andre Feil in 1912.1 It is characterized by congenital fusion of two or more cervical vertebrae. Because of the abnormal fusion process and altered spinal biomechanics with undue motion at the non-fused cervical segment, adjacent to fused segments, such individuals are predisposed to abno...

Congenital anomalies of the vertebrae are not very uncommon, especially in the lumbar region. Those of the cervical region are much less frequently seen, especially of the type classified under the Klippel-Feil syndrome, or absence of the cervical spine. Although the deformity was probably recognized for many years before, it was not until Klippel and Feil in 1912, in the report of their case w...

Klippel-Feil Syndrome (KFS), also known as synostosis of cervical spine, is sporadic, but seldom may be inherited [1,2]. The absence of population screening studies has made it impossible to define the exact incidence and prevalence of KFS. Nevertheless, it has been estimated that it occurs in approximately 1:40,000 to 1:42,000 births [3]. KFS, or synostosis of the cervical spine, occurs as a r...

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the vagina, with bilateral nonfunctional rudimentary uteri. The MRKH syndrome is frequently associated with anomalies of the urinary tract, skeleton, and less frequently with cardiac defects. Ovarian function is normal, and the karyotype of the patients is always 46,XX. The authors describe the associat...

BACKGROUND Internal carotid artery agenesis is a rare anomaly that can be clinically asymptomatic. Klippel-Feil syndrome is a skeletal malformation characterized by vertebral fusion. Presence of postaxial polydactyly is suggestive of an underlying syndrome. CASE REPORT We report a rare case of a 44-year-old patient with non-specific symptoms and an association between these three rare abnorma...

The Wildervanck (or cervico-oculo-acoustic) syndrome consists of the characteristic triad of Klippel-Feil anomaly, abducens nerve palsy, and congenital deafness. It is a rare "disorder of polygenic heredity with sex limitation predominant to the female" (female-male ratio is 10: 1) ( 1 ). Hearing loss is most commonly neurosensory due to developmental inner ear anomalies. Only a single case of ...

OBJECTIVES To offer a second opinion on the recently published retrospective diagnosis of Cardinal Carlo de' Medici (1596-1666), a prominent member of the grand ducal family then ruling Tuscany. METHODS Retrospective diagnosis of historical figures is difficult and at times controversial, even with modern technology. It is based on contemporaneous medical descriptions and historical reviews, ...