Results 1 to 10 of about 436,684 (219)

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator [PDF]

Clinical Genetics, 2017
peer reviewedThe evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID).
Aimé Lumaka, G Van Buggenhout, D Donnai   +2 more
exaly   +6 more sources

Congenital Cataracts – Facial Dysmorphism – Neuropathy [PDF]

Orphanet Journal of Rare Diseases, 2006
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have ...
Kalaydjieva Luba
doaj   +4 more sources

Congenital cataracts, facial dysmorphism, and neuropathy syndrome

Pediatric Neurology, 2011
Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene ...
Athanassaki, C., Kanavakis, E., Poulou, M., Pons, R., Tzifi, F.   +4 more
core   +5 more sources

Facial Dysmorphism: An Unreported Teratogenicity with Levetiracetam [PDF]

Journal of Clinical and Diagnostic Research, 2017
Levetiracetam (LEV) is a relatively newer anticonvulsant drug used to treat epilepsy and is approved by United States Food and Drugs Administration (USFDA).
Jyotsana Gupta, Sandhya Jain, Shalini Rajaram, Neerja Goel, Bindiya Gupta   +4 more
doaj   +3 more sources

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism [PDF]

Korean Journal of Pediatrics, 2016
We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay.
Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol   +8 more
doaj   +3 more sources

Jacobsen syndrome in a patient with combined immunodeficiency, thrombocytopenia, congenital heart disease and facial dysmorphism: a case report and review of literature

Alergologia Polska
Contiguous gene (deletion) syndrome caused by partial deletion of the long arm of chromosome 11 is called Jacobsen syndrome (JS). Jacobsen syndrome is one of the rare causes of syndromic immunodeficiency.
Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar   +2 more
doaj   +2 more sources

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

American Journal of Medical Genetics, Part A, 2021
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.
Emmanuelle Souzeau, Owen M Siggs, Francesca Pasutto   +2 more
exaly   +2 more sources

New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation

American Journal of Medical Genetics, Part A, 2008
International audienceInterstitial deletions of the long arm of chromosome 12 are rare rearrangements with only 15 cases reported in the literature. The phenotype may include facial dysmorphism, developmental delay, ectodermal abnormalities, cardiac and ...
Guntram Borck, Richard Redon, Véronique Abadie   +2 more
exaly   +2 more sources

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism

The Turkish Journal of Pediatrics, 2014
Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11.
Pelin Özlem Şimşek-Kiper, Yavuz Bayram, Gülen Eda Ütine, Yasemin Alanay, Koray Boduroğlu   +4 more
doaj   +2 more sources

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Case Reports in Genetics, 2017
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations.
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian   +8 more
doaj   +2 more sources