Literature DB >> 26239279

Progressive hip joint subluxation in Saul-Wilson syndrome.

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.
© 2015 Wiley Periodicals, Inc.

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


  1 in total

1.  A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Authors:  Carlos R Ferreira; Zhi-Jie Xia; Aurélie Clément; David A Parry; Mariska Davids; Fulya Taylan; Prashant Sharma; Coleman T Turgeon; Bernardo Blanco-Sánchez; Bobby G Ng; Clare V Logan; Lynne A Wolfe; Benjamin D Solomon; Megan T Cho; Ganka Douglas; Daniel R Carvalho; Heiko Bratke; Marte Gjøl Haug; Jennifer B Phillips; Jeremy Wegner; Michael Tiemeyer; Kazuhiro Aoki; Ann Nordgren; Anna Hammarsjö; Angela L Duker; Luis Rohena; Hanne Buciek Hove; Jakob Ek; David Adams; Cynthia J Tifft; Tito Onyekweli; Tara Weixel; Ellen Macnamara; Kelly Radtke; Zöe Powis; Dawn Earl; Melissa Gabriel; Alvaro H Serrano Russi; Lauren Brick; Mariya Kozenko; Emma Tham; Kimiyo M Raymond; John A Phillips; George E Tiller; William G Wilson; Rizwan Hamid; May C V Malicdan; Gen Nishimura; Giedre Grigelioniene; Andrew Jackson; Monte Westerfield; Michael B Bober; William A Gahl; Hudson H Freeze
Journal:  Am J Hum Genet       Date:  2018-10-04       Impact factor: 11.025

  1 in total

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