Preliminary communication: Photoanthropometric analysis of individuals with the fragile X syndrome

Butler, Merlin G.; Allen, Gregory A.; Singh, Dharmdeo N.; Carpenter, Nancy J.; Hall, Bryan D.

doi:10.1002/ajmg.1320300114

Cited by 14 publications

(11 citation statements)

References 4 publications

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“…The photoanthropometric method used in this study follows the protocol established by Stengel-Rutkowski et al (1984) and utilized by Butler et al (1988) in the study of fragile X syndrome and more recently in Prader-Willi syndrome patients (Butler et al 1995). This methodology enables an objective description of facial structures and allows a comparison of normative standards for age and race.…”

Section: Methodsmentioning

confidence: 99%

Photoanthropometric study of craniofacial traits in individuals with Williams syndrome

Hovis

Butler

1997

Clinical Genetics

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A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were measured from strict frontal and profile photographic 35‐mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). Sixteen photoanthropometric craniofacial indices were developed from 20 measurements (3 from the frontal face, 2 from the eye region, 3 from the nose region, 2 from the mouth region, 4 from the profile face, and 6 from the ear region). Based on our measurements of 29 Williams syndrome individuals, two parameters (e.g. nose length to midface 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, broad palpebral fissure width, broad interalar distance, short length of back of nose, prominent ears with long narrow conchae, increased chin height, increased inclination of the ears and a narrow bizygomatic diameter in WS patients. These craniofacial parameters (many not previously evaluated in WS patients) may become useful for early detection, and aid in the diagnosis and study of the development of the characteristic face in Williams syndrome subjects.

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Section: Methodsmentioning

confidence: 99%

Photoanthropometric study of craniofacial traits in individuals with Williams syndrome

Hovis

Butler

1997

Clinical Genetics

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“…Butler et al (1992) also reported anthropometric standards for clinical use for weight, height, head circumference, ear length and testicular volume for fra(X) syndrome males. Until recently, these were only a few studies reporting on the linear growth patterns in fra(X) syndrome individuals (Partington 1984, Meryash et al 1984, Sutherland & Hecht 1985, Locsch et al 1988, Butler et al 1988a, Butler et al 1988b, Saul 1988. Our current research focuses on the development of anthropometric and craniofacial patterning profiles of mentally retarded males with and without the fra(X) syndrome through a comprehensive assessment of measurements at several body sites.…”

Section: Hhs Public Accessmentioning

confidence: 99%

Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome

et al. 1993

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Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of their retardation. The fra(X) syndrome males consistently showed larger dimensions for all anthropometric variables, with significant differences for height, sitting height, arm span, hand length, middle finger length, hand breadth, foot length, foot breadth, and testicular volume. A craniofacial pattern did emerge between the two groups of mentally retarded males, but with overlap of several variables. Significant differences were noted for head circumference, head breadth, lower face height, bizygomatic diameter, inner canthal distance, ear length and ear width, with the fra(X) syndrome males having larger head dimensions (head circumference, head breadth, head length, face height and lower face height), but smaller measurements for minimal frontal diameter, bizygomatic diameter, bigonial diameter, and inner canthal distance. Several significant correlations were found with the variables for both mentally retarded males with and without the fra(X) syndrome. In a combined anthropometric and craniofacial profile of 19 variables comparing 26 white fra(X) syndrome males (13 with high expression (>30%) and 13 with low expression (< 30%), but matched for age), a relatively flat profile was observed with no significant differences for any of the variables. Generally, fra(X) syndrome males with increased fragile X chromosome expression have larger amplifications of the CGG trinucleotide repeat of the FMR-1 gene. No physical differences were detectable in our study between fra(X) males with high expression and apparently larger amplifications of the CGG trinucleotide repeats compared with those patients with low expression. Our research illustrates the use of anthropometry in identifying differences between mentally retarded males with or without the fra(X) syndrome and offers a comprehensive approach for screening males for the fra(X) syndrome and selecting those individuals for cytogenetic and/or molecular genetic testing. 1983, Meaney & Farrer 1986, Meaney & Butler 1989, Butler et al. 1991a. One of these conditions is the fragile X (fra(X)) or Martin-Bell syndrome, the most common familial cause of mental retardation. This syndrome is characterized by mental retardation, macroorchidism, large or prominent ears, a long narrow face, hyperflexibility and a characteristic chromosome fragile site at Xq27.3 (Turner et al. 1986, Hagerman 1987, Butler 1988. The incidence of the fragile X syndrome is approximately one in 1000-2500 males (Herbst & Miller 1980, Turner et al. 1986, Webb et al. 1986). Unstable DNA sequence representing large increases in the number of CGG repeats have recently been located at the fragile site and characterization of the gene (FMR-1) implicated in the fra(X) syndrome is under...

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“…The photoanthropometric method used in this study follows the protocol established by Stengel-Rutkowski et al (6) and utilized by Butler et al (7) in the study of fragile X syndrome and more recently in PWS patients without growth hormone therapy (5). This methodology enables an objective description of facial structures and allows a comparison with normative standards for age and race.…”

Section: Methodsmentioning

confidence: 99%

“…palpebral fissure width and bizygomatic diameter). Sixteen photoanthropometric craniofacial indices were studied following the protocols established by Stengel-Rutkowski et al (6) and Butler et al (7). Several suggestive findings in PWS patients were documented by the photoanthropometric analysis including a narrow palpebral fissure width (particularly in older children 6-12 years of age), a high midface, a broad interalar distance, a short back of nose, a prominent high chin and broad low-set ears.…”

mentioning

confidence: 99%

Photoanthropometric study of craniofacial traits in individuals with Prader‐Willi syndrome on short‐term growth hormone therapy

1998

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An objective photoanthropometric method, useful for delineating craniofacial characteristics, was performed on 20 individuals with Prader‐Willi syndrome (PWS; 14 males and 6 females) under 12 years of age and on growth hormone therapy (e.g. for 3–12 months) to determine the effects of therapy on craniofacial features in PWS. Facial parameters were measured from strict frontal and profile photographic 35 mm slides and compared with other facial measurements from the same face (e.g. palpebral fissure width to bizygomatic diameter). We studied 16 photoanthropometric craniofacial indices following previously established protocols. Our photoanthropometric data on 20 PWS subjects meeting diagnostic criteria further supported previous findings of a high midface, a broad interalar distance, a prominent high chin and broad ears in PWS patients without growth hormone therapy. In addition, while on growth hormone therapy, the high midface, broad interalar distance and prominent high chin appeared to accentuate over time in relationship to untreated PWS patients. Conversely, broad appearing ears were not accentuated by growth hormone therapy in the PWS subjects analyzed in this study.

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Preliminary communication: Photoanthropometric analysis of individuals with the fragile X syndrome

Cited by 14 publications

References 4 publications

Photoanthropometric study of craniofacial traits in individuals with Williams syndrome

Photoanthropometric study of craniofacial traits in individuals with Williams syndrome

Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome

Photoanthropometric study of craniofacial traits in individuals with Prader‐Willi syndrome on short‐term growth hormone therapy

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