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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
A distinct, progressive ‘pseudorheumatoid chondrodysplasia’ has been recognised which is probably autosomal recessive in inheritance. Generalised contractures and painful swelling can cause confusion with juvenile rheumatoid arthritis. The hand deformities of Freeman-Sheldon syndrome and mucopolysaccharidoses may also be misdiagnosed as arthritis.
Analysis and Interpretation
Published in John M. Wayne, Cynthia A. Schandl, S. Erin Presnell, Forensic Pathology Review, 2017
John M. Wayne, Cynthia A. Schandl, S. Erin Presnell
Answer E is incorrect. Whole exome sequencing (WES) is currently an expensive and time-consuming process that requires a large bioinformatics and interpretive infrastructure. A common use of WES is interrogation of genes for mutations involved in inherited disease. An example of this is identification of the mutation responsible for Freeman–Sheldon syndrome (FSS), a rare autosomal dominant disorder known to be caused by a mutation in the gene MYH3.
Neuromuscular disorders
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Considering arthrogryposis as a whole, the conditions can be placed in three major categories: Those with total body involvement — typified by the condition formerly known as arthrogryposis multiplex congenita and now termed amyoplasia, but also including other congenital disorders showing widespread joint contractures.Those with predominantly hand or foot involvement — conditions with joint features similar to those of amyoplasia but usually limited to distal joints (wrists, hands, feet) and therefore termed distal arthrogryposis; included also are more severe types of distal myopathy such as the Freeman-Sheldon syndrome in which there are, in addition, abnormal facial features (the ‘whistling face syndrome’).Pterygia syndromes — conditions characterized by arthrogrypotic joint contractures with identifiable soft-tissue webs, usually across the flexor aspects of the knees and ankles (Figure 10.42).
A case of blepharophimosis: Freeman Sheldon syndrome
Published in Ophthalmic Genetics, 2022
Scott Bowman, Gwen Noble, Bahram Rahmani, Marilyn Mets, Hantamalala Ralay Ranaivo, Valerie Castelluccio
Freeman Sheldon syndrome is a rare genetic syndrome characterized by abnormalities of the eyes, face, hands and feet. Caution must be taken prior to general anesthesia and surgery given increased risks, including difficult airway, malignant hyperthermia, and fibrotic tissue. Detailed discussion of the risks/benefits of anesthesia with parents/guardians of these patients is imperative, as risks are potentially life threatening. Management from an ophthalmological perspective must weigh the risks and benefits of surgical intervention to repair potentially amblyogenic structural ocular abnormalities. Diagnosis can be confirmed through genetic testing.