Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects.

摘要

Short stature, short trunk, cleft palate, cleft uvula, short neck, meningocele/meningo-myelocele, scoliosis, fusion of vertebrae, hemivertebrae, platyspondyly, segmentation defects of spine, spina bifida occulta, short thorax, heart, general abnormalities, atrial septum defect, anomalous venous return, atrioventricular septal defect, coarctation/ interrupted aorta, pulmonary stenosis, ventricular septal defect, lung hypoplasia/agenesis, pulmonary segmentation defects, trachea or laryngeal anomalies, bifid/fused ribs, thin ribs, winged scapulae, anal atresia/stenosis, absent testis, cryptorchid testes, hydronephrosis, webbing at elbow, arachnodactyly, tapering fingers, flexion deformity of knee, webbing of knee, congenital (1-month) onset, prominent occiput, dimples, capillary hemangioma.