Hedgehog (Hh) signaling is vital for the patterning and organogenesis of almost every system. The specificity of these developmental processes is achieved through a tight spatio-temporal regulation of Hh signaling. Mice with defective Hh signal exhibit a wide spectrum of anomalies, including Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheoesophageal fistula, Renal dysplasia, a...

A fetus with a very rare five-fold combination of uteroplacental anomalies, bicornuate uterus, short cervix with cervical incompetence, multilobed placenta succenturiata, accessory cotyledon within the cervical funneling, and umbilical cord insertion into the anomalous cervical cotyledon, presented an early and marked decrease at the vertebral and middle cerebral arteries Doppler resistances. T...

Basic theory and common practice in temperature-based chiropractic assessment procedures and instrumentation are reviewed. Segmental spinal thermoregulatory function is presented as a refining mechanism for hypothalamic core-temperature control. Spinal nerve-cell-body function is suggested as the primary mechanism responsible for the asymmetries and anomalies commonly observed in paraspinal and...

Exome sequencing offers an efficient and affordable method to interrogate genetic factors involved in human disease. Performing exome sequencing of monozygotic twins discordant for VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities) association-type congenital malformations was hypothesized to potentially reveal...

issection of the intracranial portion of the internal carotid artery (ICA) is an uncommon cause of stroke or transient ischemic attack (TIA). Congenital anomalies of the ICA have been rarely associated with cerebral ischemia. However, unilateral ICA hypoplasia can be frequently associated with intracranial arterial anomalies and altered hemodynamics.1 We describe the case of a woman who had sud...

Congenital scoliosis is a scoliosis that occurs as a result of bony abnormalities that arise between 4 to 16 weeks of gestation. There are genetic and environmental factors involved in etio­ logy. The majority of congenital vertebral anomalies are in the thoracic spine (64%). The patients often have associated skeletal anomalies and can also be part of a syndrome. Skeletal, cardiac, genitourina...

The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased preva...

Urologic abnormalities (UA) have been reported in the literature but not bladder agenesis.1 The occurrence of genitourinary anomalies has been reported in association with numerous pathologic alterations classified as vertebral/skeletal, genital, gastrointestinal, and miscellaneous. The combination of symptoms is nonrandom. These malformations are presumed to result from a disturbed migration o...

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra-familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also b...

Klippel-Feil syndrome is a condition characterized by fusion of the spine owing to failure normal segmentation cervical structures. In this case report, we aimed describe rare syndrome, show findings using imaging techniques, and demonstrate its clinical importance. A 41-year-old female patient presented our faculty hospital with neck pain. Using magnetic resonance imaging, observed decreased a...