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Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome

Authors


  • How to Cite this Article: Braddock SR, Ardinger HH, Yang C-S, Paschal BM, Hall BD. 2010. Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome. Am J Med Genet Part A 152A:1718–1723.

Abstract

In 1990, Petty et al. described two patients representing a novel syndrome with “congenital progeriod” features and neither had classical progeria nor Wiedemann–Rautenstrauch syndrome, though many findings were overlapping. One of the cases had previously been described by Dr. Wiedemann in 1948. The key features of Petty syndrome include pre and postnatal growth restriction, decreased subcutaneous fat with loose skin, enlarged fontanelle with underdeveloped calvarium, coronal synostosis, unruly hair pattern with non-uniform distribution, prominent eyebrows, umbilical hernia, distal digital hypoplasia, and normal or near normal development. Significant overlap to other syndromes, particularly the Fontaine–Farriaux syndrome, is apparent. In 2004, Ardinger postulated that Petty syndrome, like classical progeria, might be secondary to a defect in the lamin A/C (LMNA) gene. The purpose of this paper is to describe two new unrelated cases of this unique syndrome that further delineate the phenotype, compare to phenotypically similar syndromes, and postulate that Petty syndrome could represent a new laminopathy. In addition, evidence suggesting that the Petty syndrome and Fontaine–Farriaux syndromes are variable expressions of the same condition is discussed. © 2010 Wiley-Liss, Inc.

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