Roberts syndrome is also known by many other names, including : Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome ( once thought to be an entirely separate disease ), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome.
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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.
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In affected members of this family with hypotrichosis were homozygous for a 2129T-G transversion in exon 14 of the DSC3 gene, resulting in a leu710-to-ter ( L710X ) ( Ayub et al . 2009 ) substitution at the junction of the transmembrane and the C-terminal cytoplasmic domain, predicted to cause premature termination and nonsense mediated decay of the mRNA or instability of the truncated protein.
How to say hypotrichosis in Hindi and what is the meaning of hypotrichosis in Hindi? hypotrichosis Hindi meaning, translation, pronunciation, synonyms and example sentences are provided by Hindlish.com.
