One-day-old baby boy, born with rigid translucent non compliant fragile skin with skin erosions (Figs. 62.1 and 62.2). The baby had facial deformities (Figs. 62.3 and 62.4) with open mouth in the fixed "O" position. He also had joint contractures (Figs. 62.5 and 62.6), and dyspnea....
Patients withacute neuronopathic Gaucher disease(GD II) can present with severeichthyosis(“collodian baby”), unusual facies,arthrogryposis, enlargement of the liver and spleen and hernias. Another dermatological clue to the presence of underlyingLSDis the abundant Mongolian blue spots seen in childre...
et al. Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Eur J Hum Genet 14, 1274–1279 (2006). https://doi.org/10.1038/sj.ejhg.5201696 Download citation Received16 March 2006 Revised19 May 2006 Accepted13 ...
RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook dysmorphia (redirected fromdysmorphic) Dictionary Wikipedia dys·mor·phism (dis-mōr'fizm), Abnormality of shape. Synonym(s):dysmorphia [G.dysmorphia,badness of form] ...
dysmorphic facies and scoliosis Dysmorphic feature Dysmorphic Human-Mouse Homology Database Dysmorphic Syndrome Dysmorphic Syndrome dysmorphism dysmorphism dysmorphism Dysmorphobia Dysmorphobia dysmorphogenesis dysmorphology dysmorphology dysmorphology Dysmorphophobia Dysmorphophobia Dysmorphophobia Dysmorphophobia Dys...
Share on Facebook body dysmorphic disorder (redirected fromDysmorphic Syndrome) Medical body dysmorphic disorder n. A psychiatric disorder characterized by chronic and obsessive preoccupation with perceived defects in one's physical appearance that appear minor or are not visible to others and that are ...
Review for "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially ... L Ho-Ming 被引量: 0发表: 2018年 Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb ...
Muscle Dysmorphia: An Underrecognized Form of Body Dysmorphic Disorder Body image dissatisfaction and body dysmorphic disorder in 100 cosmetic surgery patients GROWTH RETARDATION, DYSMORPHIC FACIES AND MINOR MALFORMATIONS FOLLOWING MASSIVE EXPOSURE TO PHENOBARBITONE IN UTERO ...
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) caused by germline de novo variants in FBXO11 was recently recognized as a novel intellectual disability (ID) syndrome through reverse phenotyping after whole‐exome sequencing (WES). Fewer than 50 disease‐...
2000: Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503) Journal of Clinical Endocrinology ...