✦ LIBER ✦

Re: Metacarpophalangeal analysis in Crouzon syndrome

✍ Scribed by Anderson, Peter J.; Evans, Robert D.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 1019 B
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981204)80:4<439::aid-ajmg27>3.0.co;2-t

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✦ Synopsis

We read the study by Murdoch-Kinch and Ward in the American Journal of Medical Genetics with great interest, in particular their finding that Crouzon syndrome phenotypes exhibit hand dysmorphogenesis and their contention that overlap may exist between the Crouzon syndrome and the phenotypes of the acrocephalosyndactyly syndromes.

Review of hand radiographs of 32 cases of Crouzon syndrome supports their view, with four cases exhibiting carpal fusion [Anderson et al., 1997b] similar to that found in Pfeiffer syndrome [Anderson et al., 1997c]. In addition to these hand findings, we have also found radiographic anomalies of the feet and elbows in our Crouzon patients demonstrating further overlap with Pfeiffer syndrome [Anderson et al., 1997a; Anderson et al., 1998a; Anderson et al., 1998b].

We agree that the metacarpophalangeal radiographic findings provide additional evidence for overlap between Crouzon syndrome phenotypes and the acrocephalosyndactyly syndromes resulting from fibroblastic growth factor mutations.

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