JPOSNA May 2021: Skeletal Dysplasia Quiz

This Skeletal Dysplasia Quiz represents an interactive session where POSNA members are able to work through 9 clinical scenarios to challenge how they would address these problems.  Associated with each scenario is an OITE-style question and multiple choice options that seek the most preferred answer.  In addition to the answer and follow-up radiographs, we have enlisted the opinions of  POSNA experts in skeletal dysplasia to provide an evidenced-based approach to thinking through each problem. 

 

William G. Mackenzie, MD
Department of Orthopaedics, Nemours/A I duPont Hospital for Children, Wilmington, DE

Klane K. White, MD, MSc
Seattle Children’s Hospital, University of Washington School of Medicine, Seattle, WA

Matt Bernstein, MD
Portland Shrine Hospital for Children, Portland, OR

Samantha Spencer, MD
Boston Children’s Hospital, Boston, MA

A four-month-old child with achondroplasia presents with a history of limited upper and lower extremity movements and hypotonia.  His parents report that he has had several incidences of apnea while in the car seat.  On physical exam, his head circumference is at the 90^th percentile for achondroplasia. There are typical features of achondroplasia and the neurological exam suggests extremity weakness.  What is the next best step for this patient?

A fourteen-year-old young man with achondroplasia presents with progressive thoracolumbar kyphosis.  He complains of pain over his back deformity and limited walking endurance.  His attempts to walk long distances results in tingling and weakness in his lower extremities.  There is weakness of ankle dorsiflexion and hyperreflexia. Spine x-rays and MRI were obtained as seen below. What should be done at this point?

A 2-year-old child with diastrophic dysplasia has progressive scoliosis. The neurological examination is normal. This patient should be treated by which option?

 

 

A two-year-old child with spondyloepiphyseal dysplasia congenita recently moved to town. C-spine x-rays including flexion and extension are shown. The neurological exam demonstrates hyperreflexia, bilateral positive Babinski’s, and lower extremity weakness. This child is not walking. What should be done at this point?

 

A five year old with SEDC presents with a progressive, symptomatic limp bilaterally. There is a Trendelenberg gait when tired. Examination of the hips demonstrates flexion contracture, limited abduction, and retroversion. The neurological exam is normal. Pelvic x-ray and CT scan are below. This child should be treated with which option?