Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome.

摘要: A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics 37 individuals with Prader-Willi syndrome (PWS; 21 males and 16 females; 22 15q11q13 deletions 15 normal-appearing chromosome 15s) between ages 0 12 years. Facial parameters were measured from strict frontal profile photographic 35 mm slides compared other measurements same face (e.g., palpebral fissure width bizygomatic diameter). We studied indices following protocols established by Stengel-Rutkowski et al. [1984: Hum Genet 67:272–295] Butler [1988: Am J Med 30:165–168]. Based on our individuals, none consistently outside normal range when index standards for age white control children [Stengel-Rutkowski al., 1984]. However, several suggestive findings documented analysis including: narrow [particularly in older (6–12 years)], high midface, broad interalar distance, short back nose, prominent chin, low-set ears. No significant differences found deletion or nondeletion patients this methodology. These (many not previously evaluated PWS patients) may become useful early detection, aid diagnosis study development characteristic seen patients. © 1995 Wiley-Liss, Inc.