Results 21 to 30 of about 436,684 (219)

Reduced bone morphogenetic protein receptor type 1A signaling in neural-crest-derived cells causes facial dysmorphism

Disease Models & Mechanisms, 2012
SUMMARY Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes.
Ken-ichi Yamamura, Noboru Suzuki, Hiromitsu Saito   +2 more
core   +2 more sources

Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

Molecular Cytogenetics, 2011
Background Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-
Marcun Varda Natasa, Natasa Marcun Varda, Zagorac, Andreja, Kokalj-Vokač, Nadja, Zagorac Andreja, Nadja Kokalj-Vokac, Kokalj-Vokac Nadja, Danijela Krgovic, Krgović, Danijela, Krgovic Danijela, Andreja Zagorac, Marčun-Varda, Nataša   +11 more
core   +2 more sources

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

BMC Medical Genomics, 2021
Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal ...
Soyoung Bae, A. Yang, Jinsup Kim, H. J. Lee, Hyun-Kyung Park   +4 more
semanticscholar   +1 more source

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

European Journal of Medical Genetics, 2021
CHD3-related syndrome, also known as Snijders Blok-Campeau syndrome, is a rare developmental disorder described in 2018, caused by de novo pathogenic variants in the CHD3 gene.
Juliette Coursimault, F. Lecoquierre, P. Saugier-Veber, V. Drouin‐Garraud, J. Lechevallier, A. Boland, J. Deleuze, T. Frebourg, G. Nicolas, A. Brehin   +9 more
semanticscholar   +1 more source

Clinical and Imaging Profile of Patients with Joubert Syndrome [PDF]

Journal of Movement Disorders, 2021
Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal   +6 more
doaj   +1 more source

Complete trisomy 14 mosaicism: first live-born case in Korea [PDF]

Korean Journal of Pediatrics, 2012
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated ...
Yun Jung Hur, Taegyu Hwang
doaj   +1 more source

CROUZON SYNDROME – CLINICAL-EVOLUTIVE PARTICULARITIES. CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2016
The Crouzon’s Syndrome is a rare genetic disorder, with an incidence between 1/25,000 to 1/100,000 newborn babies, transmitted autosomal dominant, characterized by facial dysmorphism and craniosynostosis, based on those characteristic can be diagnosed ...
Aniko Maria Manea, Nicoleta Kiritescu, Dobre Mihaela, Mariana Boia   +3 more
doaj   +1 more source

Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation

Journal of Child Neurology, 2009
Lowe syndrome is a multisystem disorder characterized by anomalies of the eye, the nervous system, and the kidney. It is all uncommon, X-linked disease.
Karaca, Ender, Yuksel, Adnan, Albayram, M. Sait   +2 more
core   +2 more sources

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Global Medical Genetics, 2022
The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism.
Ayca Kocaaga, Sevgi Yimenicioglu
doaj   +1 more source

LEOPARD SYNDROME. FAMILIAL CASES [PDF]

Romanian Journal of Pediatrics, 2014
LEOPARD syndrome is a complex disorder characterized by multiple dysmorphogenetic features. Both syndromes LEOPARD and Noonan are caused by different mutations in the same gene (PTPN11). Authors emphasize diagnosis peculiarities in two related cases with
Sorin Ioan Iurian, Han Brunner, Helger Yntema, Bogdan Mehedintu   +3 more
doaj   +1 more source