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Pfeiffer syndrome type 2: Further delineation and review of the literature

✍ Scribed by Plomp, Astrid S.; Hamel, Ben C.J.; Cobben, Jan M.; Verloes, Alain; Offermans, Jos P.M.; Lajeunie, Elisabeth; Fryns, Jean Pierre; de Die-Smulders, Christine E.M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 36 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980123)75:3<245::aid-ajmg3>3.0.co;2-p

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✦ Synopsis

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 with PS type 2 died shortly after birth. Causes of death include pulmonary problems, brain abnormalities, prematurity and post-operative complications.

DNA studies were performed in 3 of the 5 patients. Two of them showed a 1036T → C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. Probably most, if not all, PS type 2 cases are caused by a de novo mutation in the FGFR2 gene or in another, yet unidentified gene. To date all type 2 cases have been non-familial. A low recurrence risk for parents can be advised. Am.

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