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Bloom Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Bloom syndrome is associated with a spectrum of clinical symptoms: (i) growth deficiency (affecting height, weight, and head circumference); (ii) dysmorphic facies (narrow face with underdeveloped malar and mandibular prominences and retrognathia or micrognathia); (iii) feeding problems (slow feeding, decreased appetite); (iv) skin lesions (red, sun-sensitive rash/telangiectasia/poikiloderma on the nose, cheeks, the dorsa of the hands and forearms; cheilitis, blistering and fissuring of the lips, eyebrow and eyelash hair loss, alopecia areata, and vesicular and bullous lesions with excessive or intense sun exposure; café-au-lait macules and areas of hypopigmented skin); (v) immunodeficiency (low plasma IgM and IgA levels); (vi) infections; (vii) reduced fertility (azoospermia or severe oligospermia; premature menopause); (viii) other anomalies (tracheoesophageal fistula, cardiac malformation, absent thumbs, and absence of a toe and malformation of a thumb); (ix) medical complications (chronic bronchitis and bronchiectasis, pulmonary failure; myelodysplasia; diabetes mellitus; cancer) (Figures 64.2 and 64.3) [3,16,19–21].
The Human Genome Project and Its Impact on Understanding Developmental Disabilities
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Daniel J. Wattendorf, Maximilian Muenke
The most common monogenic disorder associated with mental retardation is fragile X syndrome. Pleiotropic somatic and behavioral features include facial dysmorphism with a long narrow face and prominent ears, unusual growth patterns, macroorchidism, developmental delay with mental retardation, hyperactivity, and autistic-like behaviors (55). Caused by a mutated allele of FMR1, fragile X syndrome is transmitted as an X-linked dominant disorder that is due to a trinucleotide repeat (CGG) that expands during meiosis from a premutation size to a full mutation. This increase in size of the CGG-repeat leads to excessive methylation extending from the site of the repeat in the 5′UTR to the adjacent promoter with subsequent loss of expression of its protein, FMRP. While the phenotypic effects are attributed to the absence, and thus, loss of function of FMRP, there may be detrimental effects associated with a premutant allele (i.e., an expanded CGG-repeat, but without methylation induced gene silencing) due to a gain-of-function. For example, premutation females may have premature ovarian failure (56).
Genetics
Published in Manoj Ramachandran, Tom Nunn, Basic Orthopaedic Sciences, 2018
Peter Calder, Harish Hosalkar, Aresh Hashemi-Nejad
Prader–Willi’s syndrome. This syndrome is caused by abnormalities in genes located in 15q11q13 (partial chromosome 15 deletion from father) and has an incidence of 1 in 12,000–15,000 newborns. The major clinical criteria are neonatal and infantile hypotonia, dolicocephaly (head length is longer than expected compared to the width, leading to a narrow face), almond-shaped eyes, hypogonadism and mild to moderate learning difficulties. Patients with Prader–Willi’s syndrome have hyperphagia, food foraging and an obsession with food. Hip dysplasia and scoliosis is also observed.
Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families
Published in Ophthalmic Genetics, 2019
V. Hernández, I. Pascual-Camps, M. J. Aparisi, M. Martínez-Matilla, F. Martínez, J. A Cerón, L. Pedrola
The major clinical manifestations of NHS include congenital cataracts, dentition abnormalities, characteristic facial features and, in some cases, intellectual disability (7). In affected males, the main clinical feature is the presence of bilateral congenital cataracts, which can be defined as any opacity or cloudiness of the crystalline lens, causing total or partial blindness. Other ocular abnormalities, such as microcornea, nystagmus and strabismus, may be present in some cases (7). This syndrome is also characterized by numerous dental abnormalities. The incisor teeth may be screwdriver-shaped or have an appearance reminiscent of the Hutchinson’s teeth in congenital syphilis. In addition, certain facial features can be expressed, such as a long, narrow face, and prominent ears and nose (7).
Facial anthropometric measurements in Iranian male workers using Digimizer version 4.1.1.0 image analysis software: a pilot study
Published in International Journal of Occupational Safety and Ergonomics, 2018
Elham Salvarzi, Alireza Choobineh, Mehdi Jahangiri, Sareh Keshavarzi
In several studies, the effects of facial dimensions and forms on respiratory resistance have been investigated. Accordingly, it has been suggested that long narrow faces (long face length and narrow face width) could result in increased turbulence [8] and thus more resistance inside respirator masks [11]. Similarly, shorter lip lengths have been suggested to increase turbulent flow within the respirator because it might allow available oxygen to bypass the mouth or contribute to a build-up of carbon dioxide inside the mask. Increased resistance inside a respirator could have an effect on the amount of time and the rate at which one could continue performing his/her activity while wearing a respirator [11].
High-resolution computed tomography assessment of bony nasolacrimal parameters: variations due to age, sex, and facial features
Published in Orbit, 2021
Zhiheng Lin, Namita Kamath, Adeela Malik
In summary, our results suggest a young female patient with a tall nose and narrow face would be most likely to have narrow NLDs. Epiphora or NLD obstruction in an older male patient with a flatter nose and wider face may be more likely due to secondary acquired causes. This work contributes to understanding differences in bony nasolacrimal anatomy based on patient gender, age and facial features. Future studies could look at patients with epiphora to compare aetiologies across these demographics.