UNASSIGNED: Variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver-Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.
UNASSIGNED: A 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A > G and c.163(exon2)G > A.
UNASSIGNED: The MBTPS1 gene c.1589(exon12)A > G and c.163(exon2)G > A on chromosome 16q23-q24 is associated with SEDKF. Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis.

Osteochondromyxomas (OMX) are rare congenital bone tumors that have only been described in the context of Carney complex syndrome (CNC). Data on OMX as a separate entity and in association with other disorders remain limited, making both diagnosis and treatment difficult.
A case report of a 17-year-old female diagnosed with sellar OMX is presented in the setting of spondyloepiphyseal dysplasia (SED). We discuss the radiographic and histopathological interpretations in addition to reviewing the current literature on OMX.
A successful gross total resection of the tumor was achieved via an endonasal endoscopic transsphenoidal approach. A diagnosis was established radiographically and pathologically.
The diagnosis and treatment of OMX are best achieved via tissue biopsy. Following confirmed osteochondromyxoma cases long term for recurrence and outcomes will be essential in understanding its natural tumor history and in establishing standard treatments.

UNASSIGNED: Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare inherited dysfunction with autosomal recessive inheritance. SEDT-PA is also named as progressive pseudorheumatoid arthropathy of childhood as it is associated with multiple joint contractures and arthritis. We report a case of SEDT-PA managed with bilateral stage total hip arthroplasty.
UNASSIGNED: A 22-year-old lady presented with severe bilateral hip arthritis. Based on her clinical and radiological features described in this article, she was diagnosed as having SEDT-PA. She was managed with bilateral stage total hip arthroplasty. The pre-operative planning and technical challenges of performing this procedure have been described.
UNASSIGNED: Dysfunctions originally of genetic origin like spondyloepiphyseal dysplasia tarda mimics and is commonly misdiagnosed as juvenile chronic arthritis. These patients have disabling early-onset hip arthritis which requires surgery. Arthroplasty is challenging in these patients because of the low proximal femur offset but good results can be obtained after thorough pre-operative planning to tackle intraoperative difficulties.

UNASSIGNED: Spondyloepiphyseal dysplasia is the clinical term applied to a group of rare genetic disorders with primary involvement of the vertebrae and epiphyses, predisposing the afflicted individuals toward the premature development of osteoarthritis. There are few reports concerning joint replacement therapy in these patients, particularly describing the role of total hip arthroplasty. In this report, we describe the anatomical and technical aspects of spondyloepiphyseal dysplasia that must be considered during surgical planning and performance of total knee arthroplasty.
UNASSIGNED: A 49-year old woman with a history of spondyloepiphyseal dysplasia suffered from severe osteoarthritis of the knee and irreducible congenital dislocation of the patella. After careful preoperative evaluations and planning, the knee joint deformity was solved by knee joint replacement with realignment of the extensor mechanism using quadricepsplasty. After 2 years of surgery, the patient showed no pain and was able to walk with the help of elbow crutches. The Hospital for Special Surgery knee score increased from preoperative 51 points to 85 points during the final follow-up. The postoperative range of motion increased to final flexion of 0-115°.
UNASSIGNED: The advances made so far in the medical care for patients with skeletal dysplasia have improved their overall survival during adulthood. The case report described herein demonstrates the numerous challenges and technical aspects of a successful total knee arthroplasty in cases of spondyloepiphyseal dysplasia, highlighting the need to consider skeletal and soft tissue abnormalities of skeletal dysplasia during the planning and performance of joint replacement surgery.