title: Sjögren-Larsson syndrome--unusual presentation with pathological femoral neck fracture: a case report.
abstract: Patients with Sjögren-Larsson syndrome, an autosomal recessive syndrome characterized by ichthyosis, spastic diplegia/quadriplegia, mental retardation and ocular features that include pigmentary changes in the retina, rarely present to the orthopaedic surgeon. We detail a rare and unusual presentation of Sjögren-Larsson syndrome in an adolescent boy with bilateral femoral neck fractures.
authors: Paediatric Orthopaedic Unit, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Balasubramanian
authors: B
authors: Balakumar
authors: Sanjay
authors: S
authors: Arora
authors: Thomas
authors: T
authors: Palocaren
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005265:Femoral Neck Fractures / Q000175:diagnosis* / Q000209:etiology / Q000601:surgery; D005598:Fractures, Spontaneous / Q000175:diagnosis* / Q000209:etiology / Q000601:surgery; D006801:Humans; D007057:Ichthyosis / Q000150:complications; D008297:Male; D010027:Osteotomy / Q000379:methods; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis*; D016896:Treatment Outcome; D014808:Vitamin D Deficiency / Q000209:etiology