[Atypical course in Stickler syndrome]

Area of Science:

• Genetics
• Orthopedics
• Ophthalmology

Background:

• Stickler syndrome is an autosomal dominant hereditary disorder with low incidence.
• It typically presents with joint hypermobility and ocular anomalies.
• Hip disease is an uncommon manifestation of Stickler syndrome.

Observation:

• A 12-year-old boy initially diagnosed with dysplasia epiphysealis capitis femoris based on MRI findings of femoral head osteonecrosis.
• The patient experienced progressive hip stiffness and subsequent retinal detachment.
• Atypical presentation led to delayed diagnosis of Stickler syndrome.

Findings:

• Molecular investigation confirmed Stickler syndrome.
• The case demonstrates a rare association between Stickler syndrome and hip disease.
• The patient's clinical course was atypical, differing from typical hypermobility presentations.

Implications:

• This case underscores the importance of considering rare genetic disorders in the differential diagnosis of pediatric hip conditions.
• Early and accurate diagnosis of Stickler syndrome is crucial for timely management of associated ocular and skeletal complications.
• Further research into the varied clinical spectrum of Stickler syndrome, particularly its orthopedic manifestations, is warranted.