An anthropometric study of males with the Fragile‐X syndrome

Meryash, David L.; Cronk, Christine E.; Sachs, Benjamin P.; Gerald, Park S.; Opitz, John M.

doi:10.1002/ajmg.1320170110

Cited by 60 publications

(40 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…85,86 After birth, the head circumference tends to rise above the 50th percentile and continues to be larger than for male patients without FXS. 75,77,80,82,83,87 This is also reflected in the FXCRC data, where a larger head circumference was similar to that in other studies of adults with FXS. 75,87 For girls, Hagerman et al (1992) 88 found no difference in height, weight, or head circumferences of girls with FXS compared with relatives negative for the full mutation.…”

Section: Growthsupporting

confidence: 84%

“…75,77,80,82,83,87 This is also reflected in the FXCRC data, where a larger head circumference was similar to that in other studies of adults with FXS. 75,87 For girls, Hagerman et al (1992) 88 found no difference in height, weight, or head circumferences of girls with FXS compared with relatives negative for the full mutation. Loesch et al (1995) 84 observed an above-average rate of growth in girls from age 5 until age 8 years,…”

Section: Growthsupporting

confidence: 84%

“…To summarize and update the literature, in this article we report data on the frequency of comorbid medical problems in a large cross-sectional cohort of patients with FXS seen in fragile X clinics in the Fragile X Clinical and Research Consortium (FXCRC), preceded by a review of previous findings about these problems in FXS. 87.7% reported as white and 6.5% as Hispanic. The data set was based on a set of standardized data collection modules designed to elicit information from clinicians and parents on a wide variety of medical, behavioral, and other concerns.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

View full text Add to dashboard Cite

Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known singlegene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families. Pediatrics 2014;134:995-1005

show abstract

Section: Growthsupporting

confidence: 84%

Section: Growthsupporting

confidence: 84%

mentioning

confidence: 99%

See 1 more Smart Citation

Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

View full text Add to dashboard Cite

show abstract

“…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.…”

mentioning

confidence: 99%

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

et al. 1993

View full text Add to dashboard Cite

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...

show abstract

“…Although the fragile X (or Martin-Bell) syndrome is a well -recognized condition and the most common cause of familial mental retardation, few anthropometric studies are available [Brown et al, 1981;Meryash et al, 1984;Partington, 1984]. Therefore, we used a photoanthropometric method, which enables an objective description of facial structures, to examine 31 boys with the fra(X) syndrome below the age of 12 years.…”

Section: Introduction and Methodsmentioning

confidence: 99%

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

et al. 1988

View full text Add to dashboard Cite

A photoanthropometric method, which enables an objective description of facial structures, was used to examine 31 boys with the fragile X or Martin-Bell syndrome below the age of 12 years. The age range was 1.5 to 12 years with an average age of 6.5 years. Facial parameters were measured from strict frontal and profile photographs of fra(X) syndrome boys and compared with other facial measurements from the same face (e.g. mouth width vs. bizygomatic diameter). We studied 18 photoanthropometric facial parameters following the protocol established by StengelRutkowski et al [1984]. Fourteen indices were calculated and compared with photoanthropometric index standards for age, established from normal children between 0 and 12 years [StengelRutkowski et al, 1984]. Two of the fourteen craniofacial indices, broad palpebral fissures and decreased inner canthal distance, were significantly abnormal.

show abstract

An anthropometric study of males with the Fragile‐X syndrome

Cited by 60 publications

References 12 publications

Fragile X Syndrome: A Review of Associated Medical Problems

Fragile X Syndrome: A Review of Associated Medical Problems

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

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

Contact Info

Product

Resources

About