103 Stickler Syndrome
Stickler dysplasia, hereditary progressive arthro-ophthalmopathy,
Stickler arthro-ophthalmopathy
Flat midface, congenital myopia, cleft palate, hearing loss, enlarged joints
Frequency: 1 in 20,000 births.
Genetics
Autosomal dominant (OMIM 108300); Stickler type I, with eye changes, is due to mutations of the COL2A1 gene, which maps to 12q13.11-q13.2; Stick- ler type II (beaded-vitreous type, OMIM 604841) is caused by mutations of the COL11A1 gene mapped to chromosome 1p21 (allelic to Marshall syndrome);
Stickler type III (nonocular type, OMIM 184840) is caused by mutations in the COL11A2 gene at chro- mosome 6p21.3, and is the same entity as Weissen- bacher-Zweymüller syndrome (allelic to OSMED).
Clinical Features
Highly variable, often manifesting in infancy or early childhood
Differential Diagnosis
• Marshall syndrome
• Otospondylomegaepiphyseal dysplasia (OSMED)
• Spondyloepiphyseal dysplasia congenita
• Neonatal form of Kniest dysplasia
Radiographic Features:
1. Infancy Limbs
• Widened metaphyses, especially of femurs and tibias
Spine
• Coronal cleft vertebrae
Radiographic Features:
2. Childhood Spine
• Mild platyspondyly, occasionally with end-plate irregularities resembling those of Scheuermann disease
• Anterior wedging of vertebral bodies
• Kyphosis (thoracic), mild to moderate scoliosis Limbs
• Undermodeled long tubular bones, with broad
S
a
c b
Fig. 103.1. aPatient 1, a child. Note flat midface, depressed nasal bridge, and micrognathia (Re- printed, with permission, from Spranger 1998);
b, c Patient 2, an adolescent. Normal head, flat midface, severe myopia, slight micrognathia, and prominent ears
Fig. 103.2. Patient 3, age 5 years.
Slightly flattened, otherwise nor- mal lumbar vertebrae. (Reprinted, with permission, from Spranger 1998.) b Patient 4, age 34 years.
Note vertebral flattening with mild thoracic kyphosis, and mar- ginal vertebral osteophytes (From Sebes and Kasthuri 2000)
a
b
S
Fig. 103.3. a Patient 3, at age 2 years. Note broad proximal femoral metaphyses and flat epi- physes, with coxa valga. (Re- printed, with permission, from Spranger 1998.) b Patient 5, age 10 years. Note flattening and scle- rosis of capital femoral epiphyses and bilateral coxa valga. (Reprint- ed, with permission, from Canepa et al. 1996)
a
b
b
