dysmorphism การใช้

• Affected infants are apparently normal, although some mild facial dysmorphism may be noticeable.
• They have physical abnormalities including a large head ( macrocephaly ), sparse hair, prominent scalp veins, dysmorphism.
• Cohen syndrome is mostly characterized by obesity, mental retardation, and craniofacial dysmorphism due to genetic mutation at locus 8q22-23.
• One presented with a phenotype of facial dysmorphism, immunodeficiency, livedo, and short stature ( also knowns as the FILS syndrome ).
• In humans, mutations in the XRCC4 gene cause microcephalic primordial dwarfism, a phenotype characterized by marked microcephaly, facial dysmorphism, developmental delay and short stature.
• Almost all patients with this syndrome have some degree of mental retardation and facial dysmorphism ( round face, deep-set eyes, thin upper lip ).
• Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy ( CCFDN ), Marinesco-Sj鰃ren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
• The F279S mutation of PHF8, found in 2 Finnish brothers with mild intellectual disability, facial dysmorphism and cleft lip / palate, was found to additionally prevent nuclear localisation of PHF8 overexpressed in human cells.
• "' Young Simpson syndrome "'( "'YSS "') is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.
• The researchers recently updated the work with a study of 32 women bodybuilders, 17 of whom showed signs of an emotional disorder called body dysmorphism, which is the excessive preoccupation with a trait or traits of the body viewed as ugly or defective whether they are or not.
• Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome ( dwarfism with high growth hormone and low somatomedin activity ), and other defects.
• "' Xia-Gibbs Syndrome "', also known as " AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome " is a newly discovered genetic disorder caused by a heterozygous mutation in the AHDC1 gene ( AT hook, DNA binding motif, containing 1 ) on chromosome 1p36.
• They have physical abnormalities including a large head ( macrocephaly ), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles, hollow cheeks ( malar hypoplasia ), general loss of fat tissues under the skin ( lipoatrophy ), delayed tooth eruption, abnormal hair pattern ( hypotrichosis ), beaked nose, mild to severe mental retardation and dysmorphism.
• The cranial dysmorphisms associated with 3C syndrome are heterogeneous and include a degree of macrocephaly, a large anterior fontanel, a particularly prominent occiput and forehead, ocular hypertelorism ( wide-set eyes ), slanted palpebral fissures, cleft palate, a depressed nasal bridge, cleft palate with associated bifid uvula, Low-set ears are the most common cranial dysmorphism seen in 3C syndrome, and ocular coloboma is the least common of the non-concurrent symptoms ( cleft lip co-occurring with cleft palate is the least common ).