The orthopedic characterization of Goltz syndrome. Issue 1 (11th February 2016)

• Record Type: Journal Article
• Authors: Smith, Amanda; Hunt, Thomas R.
• Other Names: Fete Mary guestEditor.; Fete Timothy J. guestEditor.; Sutton V. Reid guestEditor.
• Is Part Of: American journal of medical genetics. Volume 172:Issue 1(2016)
• Page Start: 41
• Page End: 43
• Publication Date: 2016-02-11
• Subjects: focal dermal hypoplasia -- Goltz syndrome -- syndactyly -- ectrodactyly -- brachydactyly; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31470
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare condition in which congenital anomalies result in a multitude of defects that affect many systems of the body. These defects can involve the eyes, skin, teeth, and cardiovascular, skeletal, and gastrointestinal systems. There have been many associated abnormalities reported in the literature. An appreciation of the clinical presentation of Goltz syndrome is important because physicians rely heavily on recognition of key physical characteristics in order to help make a diagnosis. In this report, we summarize the clinical findings observed when we were afforded the unique opportunity to interview and physically examine 19 patients, the largest group of individuals with Goltz syndrome brought together in one place to date. The findings are intended to characterize the orthopedic phenotypic manifestations of Goltz syndrome. This collection of data revealed that the most common orthopedic findings were syndactyly (68%), ectrodactyly (68%), leg length discrepancy (57%), and reduction defects of long bones (52%). Nail irregularities were present in 89% of the patients seen. © 2016 Wiley Periodicals, Inc.