The Journal of Bone and Joint Surgery (American). 2005;87:2639-2648.
doi:10.2106/JBJS.D.02011
© 2005 The Journal of Bone and Joint Surgery, Inc.
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Upper-Extremity Phocomelia Reexamined: A Longitudinal Dysplasia

Charles A. Goldfarb, MD1, Paul R. Manske, MD1, Riccardo Busa, MD2, Janith Mills, MPAS, PAC2, Peter Carter, MD2 and Marybeth Ezaki, MD2

1 Department of Orthopaedic Surgery, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8233, St. Louis, MO 63110. E-mail address for C.A. Goldfarb: goldfarbc{at}wustl.edu
2 Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 758219-3993

Investigation performed at Texas Scottish Rite Hospital, Dallas, Texas, and Shriners Hospital for Children, St. Louis, Missouri

The authors did not receive grants or outside funding in support of their research or preparation of this manuscript. They did not receive payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, educational institution, or other charitable or nonprofit organization with which the authors are affiliated or associated.

Background: In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia.

Methods: The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax).

Results: Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral focal deficiency, were common in those patients. Eleven limbs in ten patients were identified as having severe combined dysplasia, which was type A in seven of them and type B in four. Four patients with severe combined dysplasia had congenital cardiac anomalies, and four had associated musculoskeletal abnormalities. Three of the four patients with the type-B disorder had a contralateral ulnar longitudinal dysplasia.

Conclusions: We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.

Level of Evidence: Diagnostic Level II. See Instructions to Authors for a complete description of levels of evidence.


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