Spondyloepimetaphyseal dysplasias (SEMD) are a heterogeneous group of chondrodysplasias, characterized by different patterns of inheritance. Different subtypes of SEMD are reported in genetic medical databases and literature. The Smith-McCort variant syndrome (SMS) or smith-mccort dysplasia is one of the subtypes of SEMD (subtype II).
1. SMS is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a Short trunk with a barrel-shaped chest. Here we report a case of SMS, presenting characteristic orofacial and radiographic features.
2. The patients of SMS have a short trunk, dwarfism, a striking barrel-shaped chest, sternal protrusion, kyphoscoliosis, and various distal deformities, including genu valgum or varum.
3. The most striking radiographic findings are lacy iliac crest apophysis, hip dysplasia, platyspondyly, double vertebral hump, and odontoid hypoplasia, with atlantoaxial instability.
4. The diagnosis may be confirmed histologically, but no biochemical defect has been defined yet.
5. In SEMD, disturbed growth can be recognized by abnormal radiographic findings within the epiphyses of long bones, the adjacent metaphyses, and the vertebral bodies.
6. Patients may require orthopedic femoral osteotomy, total hip arthroplasty, early meniscectomy, realignment osteotomy, or posterior cervical spine fusion.
7. Short limbs and a barrel-shaped chest, with a normal mentality, in addition to double-humped vertebrae and an irregular lace-like appearance of the iliac crests, are pathognomonic for DMC and SMC.
8. Orodental findings are not often described with significance and include an everted lower lip, macroglossia, enamel hypoplasia, hypo calcification, prognathism, and decreased bone density. Our case showed the characteristic skeletal and dental abnormalities of SMC, confirmed by radiographic findings.
9. Other subtypes of SEMD include subtype I, which is DMV, subtype III (X-linked with mental retardation), subtype IV (SEMD with joint laxity), and subtype V (SEMD, Strudwick type), subtype VI (SEMD, hypotrichosis), and subtype VII.
Orofacial and radiographic features,The patients of SMS have a short trunk, dwarfism, a striking barrel-shaped chest, sternal protrusion, kyphoScoliosis
Dwarfism,A striking barrel-shaped chest,Sternal protrusion,Kyphoscoliosi
Symptomatic treatment and calcium supplements