Cl. Hovis et Mg. Butler, PHOTOANTHROPOMETRIC STUDY OF CRANIOFACIAL TRAITS IN INDIVIDUALS WITH WILLIAMS-SYNDROME, Clinical genetics, 51(6), 1997, pp. 379-387
A photoanthropometric method, which enables an objective description o
f facial structures, was used to better delineate the craniofacial cha
racteristics of 29 individuals with Williams syndrome (WS; 18 males an
d 11 females) between the ages of 0 to 10 years, with an average age o
f 4.0 years. Facial parameters were measured from strict frontal and p
rofile photographic 35-mm slides and compared with other facial measur
ements from the same face (e.g., palpebral fissure width to bizygomati
c diameter). Sixteen photoanthropometric craniofacial indices were dev
eloped from 20 measurements (3 from the frontal face, 2 from the eye r
egion, 3 from the nose region, 2 from the mouth region, 4 from the pro
file face, and 6 from the ear region). Based on our measurements of 29
Williams syndrome individuals, two parameters (e.g. nose length to mi
dface height and palpebral fissure width to bizygomatic diameter) were
outside the normal range when compared with photoanthropometric index
standards for age established by Stengel-Rutkowski et al. from white
control children. Overall, our data supported a high midface height, b
road palpebral fissure width, broad interalar distance, short length o
f back of nose, prominent ears with long narrow conchae, increased chi
n height, increased inclination of the ears and a narrow bizygomatic d
iameter in WS patients. These craniofacial parameters (many not previo
usly evaluated in WS patients) may become useful for early detection,
and aid in the diagnosis and study of the development of the character
istic face in Williams syndrome subjects.