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Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

✍ Scribed by A. Jezela-Stanek; E. Ciara; E.M. Malunowicz; L. Korniszewski; D. Piekutowska-Abramczuk; E. Popowska; M. Krajewska-Walasek


Book ID
116433070
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
714 KB
Volume
51
Category
Article
ISSN
1769-7212

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We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients wit