Results 81 to 90 of about 12,560 (202)

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Frontiers in Endocrinology, 2019
Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in the melanocortin 2 receptor (MC2R) gene, characterized by a low or undetectable serum cortisol level and a high adrenocorticotropic hormone (ACTH ...
Kuerbanjiang Abuduxikuer, Zhong-Die Li, Xin-Bao Xie, Yu-Chuan Li, Jing Zhao, Jian-She Wang   +5 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Midline facial defects with hypertelorism and low-grade astrocytoma: A previously undescribed association

, 2015
We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has
Gil-da-Silva-Lopes, Vera Lucia, Giffoni, SDA, Cendes, Fernando, Cendes, F, Valente, M, Giffoni, Silvyo David Araújo, Valente, Marcelo, Gil-Da-Silva-Lopes, VL   +7 more
core   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

, 2015
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose.
Vieira, TP, Gil-da-Silva-Lopes, VL, Vieira, T Paiva, Simioni, M, Freitas, E Lopes, Freitas, EL, Gil-da-Silva-Lopes, V Lúcia, Lopes-Cendes, I   +7 more
core   +1 more source

Malformations of Cortical Development in Patients with Midline Facial Defects and Ocular Hypertelorism

, 2010
Objectives We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). Methods The investigation protocol included a previous semistructured questionnaire about family history ...
Silvyo David Araújo Giffoni, Fernando Cendes, Marcelo Valente, Vera Lucia Gil-Da-Silva-Lopes   +3 more
core   +4 more sources

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.

, 2004
We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia.
MIRACCO, CLELIA, FIMIANI, MICHELE, MACUCCI, FRANCESCA, BURLINA A. B., HADJISTILIANOU, THEODORA, VOLTERRANI, LUCA, TERROSI VAGNOLI P., ZANNOLLI, RAFFAELLA, GALLUZZI P., SACCO, PALMINO, MEDAGLINI, SERGIO, MAZZEI, MARIA ANTONIETTA, BRUNI E., MALANDRINI, ALESSANDRO, PIOMBONI, PAOLA, BUONI, SABRINA, MOLINELLI, MASSIMO CLAUDIO, SWIFT J. A., DE SANTI, MARIA MARGHERITA   +18 more
core   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao   +7 more
wiley   +1 more source