SPR Unknown #63 -- FINAL

Samuel Guirguis

Midwestern University

swguirguis+cmh@hotmail.com

Martha Saker, M.D.

Children's Memorial Hospital

Abstract

11 month old with knee contractures and elbow deformities

Keywords

1758 larsen syndrome


Publication Date: 2011-12-13

History

11 month old with history of cleft palate and cervical spine kyphosis had radiographs performed of the extremities.

Findings

Right elbow: The distal aspect of the right humerus is slightly tapered. There is posterior and lateral dislocation of the radius and ulna. The proximal portion of the ulna is somewhat convex in shape. There is a convex appearance of the proximal portion of the radius as well suggesting chronic dislocation of both bones.

Left elbow: The capitellar ossification center is present. The proximal portion of the radius and ulna are convex in shape and dislocated posteriorly and laterally as well. The findings suggest a chronic dislocation.

Knees: Both of the tibia and fibula are subluxed anteriorly with respect to the distal femur bilateral, this is more prominent on the right. There is scalloping of the central portion of the distal femurs and proximal tibias. No evidence of an epiphysis is seen in the distal femur or proximal tibia.

Diagnosis

Larsen Syndrome

DDx

Arthrogryposis multiplex congenita, Otopalatodigital syndrome, "Larsen-like multiple joint dislocation syndrome", Ehlers-Danlos syndrome, Marfan syndrome, Idaho syndrome

Discussion

Larsen syndrome is a generalized disorder of connective tissue and collagen. Typical presentations include distinctive facies (flat face, hypertelorism, depressed nasal bridge, prominent forehead, cleft palate, and cleft uvula), laxity of the joints (dislocations of hips, knees, and elbows), cylindric fingers, spatula-like thumbs, short broad fingertips, resistant clubfoot deformity, and hearing loss. Spinal involvement that may lead to progressive neurologic impairment. Classic radiographic findings include dislocations of major joints and distortion of the ends of the bones. This is a genetic disorder that can be both autosomal dominant or recessive (primarily dominant). It can be associated with CNS abnormalities such as mental retardation or hydrocephalus.

This 11 month old boy presented with cervical spine kyphosis. The pt was diagnosed with a cervical spine abnormality on a fetal US. Pt. was diagnosed with Larsen's syndrome. His mother has the same diagnosis. During that initial stay a spine MRI was performed to follow-up the cervical spine abnormality seen on the fetal US. This revealed the kyphosis of the cervical spine. Pt was transferred to CMH and underwent posterior cervical decompression. The patient also subsequently required a tracheostomy for tracheal stenosis.

References

  1. Resnick, Donald. Diagnosis of bone and joint disorders. 3rd edition. Copyright 1995
  2. Tayni, Hoodshang. Lachmach, Ralph. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. Copyright 1996

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