title: Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm.
abstract: 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.
authors.affiliation: Department of Neonatology, Gifu Prefectural General Medical Center, Gifu, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nagasawa
authors.forename: Toshinari
authors.initials: T
authors.lastname: Koyama
authors.forename: Hideo
authors.initials: H
authors.lastname: Sasai
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Kohno
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Masashi
authors.initials: M
authors.lastname: Kondo
authors.forename: Masami
authors.initials: M
authors.lastname: Sugawara
authors.forename: Daisuke
authors.initials: D
authors.lastname: Terazawa
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Miura
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D003964:Diaphragm / Q000002:abnormalities / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013154:Spleen / Q000002:abnormalities / Q000000981:diagnostic imaging; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging*
keywords: Jarcho-Levin syndrome; diaphragmatic herniation; spondylocostal dysostosis; tetralogy of Fallot; unilateral rib defect