Animals ; Humans ; Organogenesis ; physiology ; Sex Determination Processes ; Vertebrates ; physiology

Various classifications of congenital anomalies of the extremities and spine have been proposed and are in use. Some are based on anatomy, some on embryology, presumed etiology, or therapeutical approach. An ideal classification would help better understanding and treatment of various kinds of congenital anomalies. It should be simple, logical, and broad enough to include most of the congenital anomalies with minimal confusion. In this paper, we are proposing a functional classification of congenital anomalies of the extremities and spine based upon the concept that development of each organ is processed by differentiation and modulation according to the genetically determined information and by control mechanism at particular moment. We classified congenital anomalies into structural failure where quality of certain tissue is abnormal and functional failure where control mechanisms failed to regulate organogenesis. We divided structural failure into generalized and localized form while we divided functional failure into differentiation and modulation failures. Differentiation failure was subdivided as either forrnation failure or segmentation failure. Formation failure, segmentation failure, and modulation failure were specified according to the timing of failed inhibition and topography.
Classification ; Embryology ; Extremities ; Logic ; Organogenesis ; Spine

Fetus in fetu is an very rare condition in which a vertebrate fetus is incorporated within its twin. Although a number of cases were reported at 3rd trimester of gestation or postnatally, the authors present a retroperitoneal fetus in fetu with 9 x 7 x 6 cm sized cystic mass that was diagnosed at 2nd trimester using ultrasonography and confirmed on a computed tomography scan after birth. The mass was successfully excised postnatally and consistent with a fetus in fetu by pathological confirmation. Solid mass was surrounded by a fluid-containing sac and showed highly ordered organogenesis around an axial vertebral column.
Diagnosis* ; Fetus* ; Humans ; Organogenesis ; Parturition ; Pregnancy ; Spine ; Ultrasonography ; Vertebrates

Nuclear factor I-C (NFI-C) plays a pivotal role in various cellular processes such as odontoblast and osteoblast differentiation. Nfic-deficient mice showed abnormal tooth and bone formation. The transplantation of Nfic-expressing mouse bone marrow stromal cells rescued the impaired bone formation in Nfic(-/-) mice. Studies suggest that NFI-C regulate osteogenesis and dentinogenesis in concert with several factors including transforming growth factor-β1, Krüppel-like factor 4, and β-catenin. This review will focus on the function of NFI-C during tooth and bone formation and on the relevant pathways that involve NFI-C.
Animals ; Bone Development* ; Dentinogenesis ; Mesenchymal Stromal Cells ; Mice ; NFI Transcription Factors* ; Odontoblasts ; Osteoblasts ; Osteogenesis ; Osteoporosis ; Tooth*

Osteogenesis Imperfecta (OI) is a relatively rare hereditary disease, which is characterized by multiple bone fractures and spine scoliosis, due to the fragility of bone, and is often associated with blue sclerae, deafness and dentinogenesis imperfecta. Four types of OI can be distinguished, according to the clinical findings. Although mutations affecting type I collagen are responsible for the disease in most patients, the mechanism by which the genetic defects cause abnormal bone development remains to be fully understood. Here, the clinical characteristics of 10 OI patient cases are reported, with a review of the literature. All the cases, including 4 type I, 4 type III and 2 type IV, inherited OI as an autosomal dominant trait. All the subjects had multiple old fractures and decreased bone densities. In this study, the biochemical marker of bone formation, serum alkaline phosphatase, was found to be increased only in the pediatric OI patients, while the biochemical marker of bone resorption, urinary deoxypyridinoline, was increased in all cases. The mobility score was found to correlate with the severity of the type on diagnosis.
Alkaline Phosphatase ; Biomarkers ; Bone Density ; Bone Development ; Bone Resorption ; Collagen Type I ; Deafness ; Dentinogenesis Imperfecta ; Diagnosis ; Fractures, Bone ; Genetic Diseases, Inborn ; Humans ; Osteogenesis Imperfecta* ; Osteogenesis* ; Sclera ; Scoliosis ; Spine

Formation of the periodontium begins following onset of tooth-root formation in a coordinated manner after birth. Dental follicle progenitor cells are thought to form the cementum, alveolar bone and Sharpey's fibers of the periodontal ligament (PDL). However, little is known about the regulatory morphogens that control differentiation and function of these progenitor cells, as well as the progenitor cells involved in crown and root formation. We investigated the role of bone morphogenetic protein-2 (Bmp2) in these processes by the conditional removal of the Bmp2 gene using the Sp7-Cre-EGFP mouse model. Sp7-Cre-EGFP first becomes active at E18 in the first molar, with robust Cre activity at postnatal day 0 (P0), followed by Cre activity in the second molar, which occurs after P0. There is robust Cre activity in the periodontium and third molars by 2 weeks of age. When the Bmp2 gene is removed from Sp7(+) (Osterix(+)) cells, major defects are noted in root, cellular cementum and periodontium formation. First, there are major cell autonomous defects in root-odontoblast terminal differentiation. Second, there are major alterations in formation of the PDLs and cellular cementum, correlated with decreased nuclear factor IC (Nfic), periostin and α-SMA(+) cells. Third, there is a failure to produce vascular endothelial growth factor A (VEGF-A) in the periodontium and the pulp leading to decreased formation of the microvascular and associated candidate stem cells in the Bmp2-cKO(Sp7-Cre-EGFP). Fourth, ameloblast function and enamel formation are indirectly altered in the Bmp2-cKO(Sp7-Cre-EGFP). These data demonstrate that the Bmp2 gene has complex roles in postnatal tooth development and periodontium formation.
Actins ; analysis ; Activating Transcription Factor 2 ; genetics ; Age Factors ; Ameloblasts ; pathology ; Amelogenesis ; genetics ; Animals ; Bone Morphogenetic Protein 2 ; genetics ; Cell Adhesion Molecules ; analysis ; Cell Differentiation ; genetics ; Cementogenesis ; genetics ; Dental Cementum ; pathology ; Dental Pulp ; blood supply ; Fluorescent Dyes ; Green Fluorescent Proteins ; Male ; Mice ; Mice, Knockout ; Microvessels ; pathology ; Molar ; growth & development ; Molar, Third ; growth & development ; NFI Transcription Factors ; analysis ; Odontoblasts ; pathology ; Odontogenesis ; genetics ; Periodontal Ligament ; growth & development ; Sp7 Transcription Factor ; Stem Cells ; physiology ; Tooth Root ; growth & development ; Transcription Factors ; genetics ; Vascular Endothelial Growth Factor A ; analysis ; Zinc Fingers ; genetics

Intraductal papillary mucinous neoplasms (IPMNs) are premalignant lesions that require a surgical resection. IPMN can cause abdominal pain or pancreatitis as a result of either mucin production or a papillary growth, resulting in a ductal obstruction. Most IPMNs arise from the main pancreatic duct. However, IPMNs arising from the accessory pancreatic duct are extremely rare. Pancreatic divisum occurs when the ventral and dorsal ducts of the pancreas fail to fuse during organogenesis. It is the most common congenital variant of pancreatic-ductal development, and occurs in approximately 10~14% of individuals. Although pancreatic divisum has no clinical relevance, some patients present with acute recurrent or chronic pancreatitis. In most cases, it is discovered incidentally during an examination of pancreatitis, and is occasionally accompanied by a pancreatic tumor. We report the first case of IPMN in a patient with an incomplete pancreatic divisum in Korea.
Abdominal Pain ; Humans ; Korea ; Mucins* ; Organogenesis ; Pancreas ; Pancreatic Ducts ; Pancreatitis ; Pancreatitis, Chronic

Caudal regression syndrome is rare malformative syndrome characterized by lower vertebral agenesis, accompanied by abnormalities of the pelvis, lower extremities and urogenital malformation. Although the cause is not clear, hyperglycemia during the organogenesis may be important teratogen. Strict evaluation of diabetes and its control in preconception and early pregnancy are important to prevent this malformation. And ultrasonography in the first trimester should be recommended for early detection of this syndrome. We report a case of caudal regression syndrome detected by prenatal ultrasonography of the gestational diabetic mother.
Female ; Humans ; Hyperglycemia ; Lower Extremity ; Mothers ; Organogenesis ; Pelvis ; Pregnancy ; Pregnancy Trimester, First ; Ultrasonography ; Ultrasonography, Prenatal*

Numerous studies of colitis in IBD (inflammatory bowel diseases) patients and in animal models have demonstrated that both inflammatory cytokines and chemokines are up-regulated in settings of active inflammation. Blockade or absence of various cytokines and chemokines attenuates the disease in murine models of IBD. Therefore, identifying cytokines and chemokines involved in intestinal inflammation provide promising targets for the development of new drugs in the treatment of IBD. In general, chemokines have been implicated in many fundamental immune processes including lymphoid organogenesis, immune cell differentiation, development and positioning. Many chemokines are markedly increased in intestinal tissue from patients with IBD. In this study, we focused on the role of CXCL12-CXCR4 and CXCL16. CXCL12-CXCR4 axis plays a crucial role in the pathophysiology of IBD, especially UC, while SR-PSOX/CXCL16 plays a significant role in the pathophysiology of CD. Our present data suggest new insights into the etiology of IBD and we hope that the manipulation of these chemokines may have therapeutic value.
Axis, Cervical Vertebra ; Cell Differentiation ; Chemokines ; Colitis ; Cytokines ; Humans ; Inflammation ; Inflammatory Bowel Diseases ; Models, Animal ; Organogenesis

Bronchogenic cysts are rare congenital malformations that result from an abnormal development of the ventral foregut budding of the tracheobronchial tree at the time of organogenesis. They are usually located in the mediastinum and intrapulmonary regions. Localization in the cervical area is unusual, and specially, bronchogenic cysts presenting as thyroid and perithyroid cyst are quite rare. We report a case of bronchogenic cyst mimicking a thyroid colloid cyst. We tried percutaneous ethanol injection at 3 times for treatment of this thyroid cyst, but we failed, because of intractable cough. After cyst excision with thyroid lobectomy, we diagnosed the lesion to bronchogenic cyst. Bronchogenic cyst should be considered in the differential diagnosis of perithyroid cyst, which especially the lesion is intolerable cyst to enthanol injection.
Bronchogenic Cyst* ; Colloid Cysts ; Cough ; Diagnosis, Differential ; Ethanol ; Mediastinum ; Organogenesis ; Sclerotherapy ; Thyroid Gland* ; Trees