Short trunk dwarfism with multiple vertebral segmentation defects (MVSD) represents a heterogeneous group of disorders characterized by the presence of multiple vertebral and rib abnormalities. A two and one-half year-old female with the spondylothoracic dysostosisform of MVSD is presented. In addition to skeletal anomalies, a lumbar hemangioma, bilateral foot deformities, distal leg atrophy an...

Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of which the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistul...

The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine h...

Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abno...

In this study, skeletal anomalies such as vertebral centra deformation, lordosis (ventral curvature), and consecutive repetition of kyphosis were examined in specimens Barbus xanthos (Güçlü, Kalaycı, Küçük & Turan, 2020) collected from the Dalaman River, southwestern Turkey. Abnormalities column observed both thoracic caudal vertebrae. Cases showed varying degrees severity. Specimens with m...

Anomalies of the cervical spine are intriguing anatomically and often come to clinical attention. Fusion of one or more cervical vertebral segments, the Klippel- Feil anomaly (KFA), often causes increased motion at the vertebral segments superior to and inferior to the fused level with a resultant premature wear of these joints. We report an adult male skeleton with fusion of his C6 and C7 vert...

Objective: To develop a classification system for congenital spine anomalies detected by prenatal ultrasound. Methods: Data were collected from fetuses with spine abnormalities diagnosed in our institution over a five-year period between June 2005 and June 2010. The ultrasound images were analysed to determine which features were associated with different congenital spine anomalies. Findings of...

PURPOSE To describe the vascular and nonvascular intracranial and extracranial anomalies associated with hemangiomas and vascular malformations of the face, neck, and/or chest. METHODS Seventeen patients had a physical examination and imaging studies consisting of one or more of the following: pneumoencephalography, conventional carotid and vertebral arteriography, CT, MR imaging, and MR angi...

Background: Fetal anatomy is now becoming popular with advancement in fetal surgery in-utero. The knowledge regarding the embryonic development of vertebral canal plays an important role in diagnosis of congenital anomalies as well as fetal surgeries of the vertebral canal. Methods: Sixty fetuses which were preserved in 10% formalin were divided into five groups according to the gestational age...

Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopi...