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.

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

“…Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals. Since its original description in 1990 as a provisionally new skeletal dysplasia, only five cases have been reported, [1][2][3] all from different families. Some essential characteristics of SWS (i.e., severe pre-and postnatal growth retardation with possible microcephaly and skeletal dysplasia) can fall within the category of microcephalic osteodysplastic primordial dwarfism.…”

Ocular symptoms of Saul — Wilson syndrome in children

“…Данное заболевание обусловлено нуклеотидной заменой гуанина на цитозин или аденин в 1546-м положении в гене COG4, приводящей к замене глицина на аргенин в 516-м положении (Gly516Arg) белковой молекулы [1][2][3]. Доказанная мутация, которая у всех пациентов была de novo, изменяет функционирование аппарата Гольджи.…”