Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm

• Published in: Congenital anomalies Vol. 54; no. 3; pp. 189 - 192
• Main Authors: Nagasawa, Hiroyuki, Koyama, Toshinari, Sasai, Hideo, Kohno, Yoshinori, Yamamoto, Yutaka, Kondo, Masashi, Sugawara, Masami, Terazawa, Daisuke, Miura, Ryosuke
• Format: Journal Article
• Language: English
• Published: Australia Wiley Subscription Services, Inc 01.08.2014
• Subjects: Abnormalities, Multiple - diagnostic imaging; Diaphragm - abnormalities; Diaphragm - diagnostic imaging; diaphragmatic herniation; Electrocardiography; Fatal Outcome; Heart Defects, Congenital - diagnostic imaging; Hernia, Diaphragmatic - diagnostic imaging; Humans; Infant; Infant, Newborn; Jarcho‐Levin syndrome; Male; Radiography; Respiratory system; Spleen; Spleen - abnormalities; Spleen - diagnostic imaging; spondylocostal dysostosis; tetralogy of Fallot; Tetralogy of Fallot - diagnostic imaging; unilateral rib defect; spondylocostal dysostosis; unilateral rib defect; tetralogy of Fallot; Jarcho-Levin syndrome; diaphragmatic herniation
• ISSN: 0914-3505; 1741-4520
• DOI: 10.1111/cga.12052

Spondylocostal dysostosis (SCD) is a very rare syndrome characterized by vertebral malformation and rib deformity. Some of the patients with SCD have other birth defects in the central nervous system, the genitourinary tract, diaphragm or heart and so forth. There have been reported SCD with complex congenital heart disease, such as pulmonary atresia, double outlet right ventricle, and d‐transposition of great arteries. However, there have been no reported SCD patients with confirmed tetralogy of Fallot (TOF). Here, a patient with SCD having a very rare combination of rib defects on the right side and left‐sided scoliosis, tetralogy of Fallot, and diaphragmatic spleen herniation, which had not been reported before, was described.