Results 11 to 20 of about 436,684 (219)

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

European Journal of Paediatric Neurology, 2016
X-linked intellectual disability accounts for 10e12% of cases of cognitive impairment in males. Mutations in IL1RAPL1 are an emerging form of apparently non-syndromic X-linked intellectual disability.
Luigi Laino, Irène Bottillo, Laura Bernardini   +2 more
exaly   +3 more sources

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism [PDF]

Scientific Reports, 2021
Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder ...
Baynam, Gareth, Walsh, Susan, Penington, Anthony J., Palmer, Richard L, Peter D. Claes, Anthony J. Penington, Oliver W. Quarrell, Baynam, Gareth S., Weinberg, Seth M, Baynam, Gareth S, Penington, Anthony, Baynam, GS, Claes, Peter D, Quarrell, Oliver, Hennekam, Raoul C., Hallgrimsson, B, Matthews, Harold S., Peter Hammond, Mark Shriver, Quarrell, Oliver W, Hennekam, Raoul, Klein, Ophir D, Palmer, Richard, Claes, Peter, Spritz, Richard A., Palmer, Richard L., Hammond, Peter, Spritz, RA, Peeters, Hilde, Palmer, RL, Quarrell, OW, Hennekam, Raoul C, Shriver, M, Spirtz, Richard A., Weinberg, Seth M., Benedikt Hallgrimsson, Hammond, P, Claes, Peter D., Matthews, Harold S, Ophir D. Klein, Klein, Ophir, Hallgrimsson, Benedikt, Klein, OD, Matthews, Harold, Peeters, H, Hennekam, RC, Seth M. Weinberg, Penington, AJ, Weinberg, Seth, Harold S. Matthews, Susan Walsh, Spritz, Richard, Gareth S. Baynam, Shriver, Mark, Penington, Anthony J, Spritz, Richard A, Richard L. Palmer, Matthews, HS, Weinberg, SM, Claes, PD, Richard A. Spritz, Klein, Ophir D., Hilde Peeters, Quarrell, Oliver W., Raoul C. Hennekam, Walsh, S   +65 more
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Facial Dysmorphism Across the Fetal Alcohol Spectrum [PDF]

Pediatrics, 2013
OBJECTIVE:Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics.METHODS:Of ...
Michael, Suttie, Tatiana, Foroud, Leah, Wetherill, Joseph L, Jacobson, Christopher D, Molteno, Ernesta M, Meintjes, H Eugene, Hoyme, Nathaniel, Khaole, Luther K, Robinson, Edward P, Riley, Sandra W, Jacobson, Peter, Hammond   +11 more
semanticscholar   +4 more sources

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants [PDF]

American Journal of Medical Genetics. Part A, 2020
Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes.
Siggs, O.M., Christopher P. Barnett, Liebelt, J., Emmanuelle Souzeau, Craig, J.E., Shannon Le Blanc, Lachlan S. W. Knight, Barnett, C.P., Barnett, Christopher P., Jan Liebelt, Jamie E. Craig, Pasutto, F., McGregor, Lesley, Pasutto, Francesca, Lesley McGregor, Le Blanc, S., Le Blanc, Shannon, Owen M. Siggs, Luis A. Perez‐Jurado, Francesca Pasutto, Souzeau, E., Perez-Jurado, L.A., McGregor, L., Liebelt, Jan, Knight, L.S.W., Souzeau, Emmanuelle, Knight, Lachlan S. W., Pérez Jurado, Luis Alberto, Craig, Jamie E., Siggs, Owen M.   +29 more
core   +2 more sources

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics, 2019
By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay ...
Thiffault, I., Beunders, G., Hoogerbrugge, N., Reijnders, M.R.F., Griese, M., Pfundt, R.P., Vries, B.B. de, Baltrunaite, K., Bartz, S., Boel, A., Hehir-Kwa, J.Y., Dingemans, A.J.M., Gilissen, C.F., Konstantopoulou, V., Huerta-Saenz, L., Dingemans, A.J., Kuiper, R.P, Perrin, L., de Vries, B.B.A., Gassen, K. van, Donk, R. van der, Verbeek, N., Nava, C., Hwa, V., Keren, B., Afenjar, A., Brunner, H.G., Pfundt, R., Waanders, E., Dauber, A., Gilissen, C., Cadieux-Dion, M., Jongmans, M.C.J., Thevenon, J., Wagner, M., Vodopiutz, J., Kuiper, R.P., Diets, I.J., Peri, B., Wiel, L.J.M. van de, Callewaert, B., Kleefstra, T., van der Donk, R., Wiel, L., Vulto-van Silfhout, A.T., van Gassen, K.   +45 more
core   +3 more sources

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities [PDF]

Genetics in Medicine, 2023
Purpose We established the genetic etiology of a syndromic neurodevelopmental condition characterized by variable cognitive impairment, recognizable facial dysmorphism, and a constellation of extra-neurological manifestations.
Accogli, Andrea, Salick, Max R., Eggan, Kevin, Khan, Kamal, Holsclaw, Julie, Korda, Joubert, Madeleine, Wells, Michael, F, Torella, Annalaura, Davis, Erica, E, Holsclaw, Julie Korda, Salick, Max, Fox, Rachel G, Nobili, Lino, von Hardenberg, Sandra, Wells, Michael, Giacomini, Thea, Bézieau, Stéphane, Fox, Rachel, Salick, Max R, Salick, Max, R, Scala, Marcello, Fox, Rachel G., Le Vaillant, Claudine, Berking, Ann-Cathrine, Striano, Pasquale, Fox, Rachel, G, Nigro, Vincenzo, Khan, Ayaz, Davis, Erica E., Lim, Derek, Cogné, Benjamin, Wells, Michael F, Musquer, Marie, Capra, Valeria, Fievet, Lorraine, Holsclaw, Julie, Zara, Federico, Wells, Michael F., Davis, Erica E, Beneteau, Claire, Davis, Erica, Kaykas, Ajamete   +41 more
core   +2 more sources

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome

Clinical Genetics, 2001
We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional
Martin Hergersberg, K Schneider, Thomas Meitinger   +2 more
exaly   +2 more sources

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

European Journal of Medical Genetics, 2011
Saethre-Chotzen syndrome due to TWIST1 mutations is characterized by coronal synostosis, facial dysmorphism and additional variable anomalies. Small deletions comprising the whole TWIST1 account for a small proportion of patients with Saethre-Chotzen ...
Busche, A., Zweier, Christiane, Zweier, C, Busche, Andreas, Rauch, A, Graul-Neumann, Luitgard M., Horn, Denise, Luitgard M. Graul-Neumann, Eva Klopocki, Klopocki, Eva, Graul-Neumann, L M, Horn, D, Rauch, Anita, Andreas Busche, Horn, D., Denise Horn, Christiane Zweier, Anita Rauch, Zweier, C., Rauch, A., Klopocki, E., Graul-Neumann, L., Klopocki, E, Busche, A   +23 more
core   +2 more sources

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome [PDF]

Behavioural Neurology, 2015
Congenital cataracts, facial dysmorphism, neuropathy (CCFDN) syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its ...
Margarita Raycheva, Stoyan Bichev, Ivailo Tournev, Dora Zlatareva, Teodora Chamova, Luba Kalaydjieva   +5 more
core   +2 more sources

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

Journal of Medical Genetics, 2013
Background Infantile neuroaxonal dystrophy (INAD) is a recessive disease that results in total neurological degeneration and death in childhood. PLA2G6 mutation is the underlying genetic defect, but rare genetic heterogeneity has been demonstrated.
Seven, Mehmet, Tolun, Aslihan, Koroglu, Cigdem   +2 more
core   +2 more sources