We have located links that may give you full text access.
Holt-Oram syndrome: is there a "face"?
American Journal of Medical Genetics. Part A 2003 May 2
Holt-Oram syndrome, first described in 1960, is one of many heart-hand syndromes. Upper limb involvement, predominantly radial, is universal, bilateral and asymmetrical, with variable severity. Cardiac defects occur in 95% of familial cases. Inheritance is autosomal dominant with 100% penetrance and no evidence of reduced fitness. Mutations in TBX5 have been reported in Holt-Oram syndrome. This study was conducted to establish whether a particular facial appearance is associated with Holt-Oram syndrome, one which might facilitate early diagnosis and aid differentiation from other heart-hand syndromes. Twenty-five individuals were evaluated, age 11 months to 70 years. A complete dysmorphological examination was carried out, serial photographs were reviewed, and a series of anthropometric craniofacial measurements was obtained. Subjectively, the face is square with a broad lower jaw and parietal bossing. The forehead is prominent and tall. There is narrowing at the temples. Eyes seem close-set. The nose appears relatively long, with a wide base, and short columella. With age the face becomes longer and more oval. Our anthropometric approach confirms certain clinical impressions. However, there is no objective evidence for increased face or nose height, two of the most striking features of the "gestalt." Nasal height is, in fact, reduced at all ages. There does not appear to be a syndrome-specific pattern profile to facilitate the discrimination of this condition from other heart-hand syndromes.
Full text links
Trending Papers
A Personalized Approach to the Management of Congestion in Acute Heart Failure.Heart International 2023
Potential Mechanisms of the Protective Effects of the Cardiometabolic Drugs Type-2 Sodium-Glucose Transporter Inhibitors and Glucagon-like Peptide-1 Receptor Agonists in Heart Failure.International Journal of Molecular Sciences 2024 Februrary 21
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app