title: Progressive hip joint subluxation in Saul-Wilson syndrome.
abstract: Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly. We describe a boy with the overall clinical and radiological features fitting the characteristics of SWS, although cataract, elbow deformity, and overt brachydactyly were not seen. He presented with painful hip joint due to hip subluxation in late childhood, which exacerbated with age and ultimately, required surgical intervention. Awareness of this orthopedic complication in SWS is essential in the management of patients with SWS.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara, Japan.
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Kaneshi
authors.affiliation: Department of Orthopedic Surgery, Faculty of Medicine, University of the Ryukyus, Nishihara, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kamiya
authors.affiliation: Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Hata
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Departments of Advanced Genomic and Laboratory Medicine Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.|Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
mesh_terms: D000328:Adult; D002648:Child; D006617:Hip Dislocation / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D006621:Hip Joint / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome
keywords: Saul-Wilson syndrome; hip joint subluxation; short stature