Prevalence and Patterns of Scoliosis in Children With Multiple Pterygium Syndrome

Abstract

Level IV, Diagnostic Study.

Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene

“…A previous study reported that the prevalence of scoliosis in patients with MPS was 81.3% (13 of the 16 patients) [28]. A previous study reported that the prevalence of scoliosis in patients with MPS was 81.3% (13 of the 16 patients) [28].…”

Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome

“…[4,5] Although the results of surgical approaches for anomalies of neck zone and vertebral were described well, sufficient data is unavailable in the literature about surgical orthopedics approaches for anomalies in lower extremity with rehabilitation programs that were applied after the surgery. [4] The largest series were reported by Joo et al, [6] that described the prevalence of vertebral anomalies and surgical approach but not enough data was presented about lower extremity surgical approaches or their results. Bellamy et al [7] evaluated rehabilitation results of knee flexion contractures in seven cases without mentioning the surgical results.…”

Chronic Abdominal Pain in a Patient with Escobar Syndrome

“…The incidence of all forms of pterygium syndrome is uncertain and they are mostly non-specifically termed as arthrogryposis. The vast majority of previous publications on this entity are individual case reports [2,3,4,5]. …”

“…There are two forms of MPS: the Escobar type is a rare autosomal recessive disorder and is the milder of the two types. Lethal MPS is associated with stillbirth [2]. In this case report, we describe a 15-year-old female infant with Escobar syndrome (ES) presenting with abdominal pain of unknown aetiology.…”