| Literature DB >> 26239279 |
Yasutsugu Chinen1, Takuya Kaneshi1, Takeshi Kamiya2, Kenichiro Hata3, Gen Nishimura4, Tadashi Kaname5,6.
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.Entities:
Keywords: Saul-Wilson syndrome; hip joint subluxation; short stature
Mesh:
Year: 2015 PMID: 26239279 DOI: 10.1002/ajmg.a.37278
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802