1. CIFASD: Dysmorphology Core
Kenneth L. Jones
Ludmila Bakhireva
Luther K. Robinson
H. Eugene Hoyme
Miguel del Campo
Christina D. Chambers
February, 2006
First of all, I would like to thank my collaborators: ……
who encouraged me to pursue this topic and provided valuable feedback during the entire process.
I also would like to thank my husband, Alexei Bakhirev, for his support, understanding, and willingness to listen to me as I worked my way through this project

2. Data obtained by the Dysmorphology Core as of January, 2006
Data obtained from 6 sites
1,167 exams uploaded to the Central Repository
743 unique subjects examined by expert dysmorphologists (basis of this report)
419 records (exams by local pediatricians & multiple exams per subject) excluded for the analysis purposes
Osteoporosis and atherosclerosis are usually thought to be two independent processes that occur with aging. However, there is an increasing interest that these conditions are associated.
Links between the two conditions were first noted more than one hundred years ago by German Pathologist Rudolf Virchow who first reported morphologic similarities between calcified plaque and bone tissue.
Roentgenographic studies in the 1970s showed an association between calcification of the abdominal aorta and osteoporosis of the lumbar spine
Recent molecular biology studies discovered cells with both osteoblastic and osteoclastic potential in vascular tissue, and bone-related proteins have been identified in calcified arterial and valvular lesions.
Historically, this ectopic calcification was considered a degenerative process leading to passive precipitation of calcium phosphate. Molecular biology revealed that artery calcification is in fact an active process which is regulated by biological mechanisms similar to those of bone formation

3. Subjects Examined by Expert Dysmorphologists at Each Clinical Site (N=748)
% from total
Luther Robinson, Buffalo 92
12.3%
Phil May, Rome
232
31.0%
Sarah Mattson, San Diego 77
10.3%
Sarah Mattson, Moscow 58
7.8%
Sarah Mattson, Finland
139
18.6%
Sandra Jacobson, South Africa
150
20.1%

4. Description of the Sample (N=748)

5. Final Diagnoses (N=748)

6. Specific Aims:
Identify the prevalence of key structural features among children with FAS.
Identify the prevalence of additional structural features among children with FAS.
Test whether the prevalence of key structural features in children with FAS varies by sex & age.

7. Key Structural Feature
Prevalence of Key Structural Features among Children Diagnosed with FAS (N=190)
Key Structural Feature
Prevalence (%)
PFL≤10th percentile
74.7
Smooth philtrum
91.6
Thin Vermilion border
93.7

8. Additional Structural Feature
Prevalence of Additional Structural Features among Children Diagnosed with FAS (N=190)
Additional Structural Feature
Prevalence (%)
Railroad track configuration of ears
11.1
Ptosis
Camptodactyly
39.5
Difficulty in pronation/supination of elbows
10.5
Contractures in other joints
3.2
Hockey stick crease
20.0
Other altered palmar creases
Heart murmur
9.0

9. Prevalence (%) of Key Structural Features by Age (190 Children with FAS)
Age Groups
P-value
≤14 yrs
(N=151)
>14 yrs
(N=39)
Small PFL
76.8
66.7
>0.1
Smooth philtrum
90.7
94.9
Thin Vermilion border
92.7
97.4

10. Prevalence (%) of Key Structural Features by Sex (190 Children with FAS)
Age Groups
P-value
Males
(N=88)
Females
(N=102)
Small PFL
76.1
73.5
>0.1
Smooth philtrum
95.5
88.2
0.07
Thin Vermilion border
92.1
95.1

11. Conclusions
Among key structural features, thin vermilion border has the highest prevalence among children with FAS.
Among additional structural features, camptodactyly has the highest prevalence followed by altered palmar creases.

12. Conclusions (cont’d)
No significant difference was found in the prevalence of key structural features by age among children with FAS
No significant difference was found in the prevalence of key structural features by sex among children with FAS
Smooth philtrum tended to have a slightly higher prevalence among boys compared to girls with FAS (95.5% vs 88.2%, respectively; p=0.07)