| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Alberta Leon, Camilla Stefanini, Daniele Frattini, Susanna Rizzi, Anna Cavalli, Livia Garavelli, Carlo Fusc. Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature. Neurogenetics. 2024-04-23. PMID:38652341. |
during follow-up we highlighted: dysphagia (which became increasingly severe until it became incompatible with oral feeding, with gastrostomy implantation, resulting in resolution of feeding difficulties), strabismus, hypotonia. |
2024-04-23 |
2024-04-26 |
Not clear |
| Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito-Sanz, Susan M White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa Bastarache, Amanda Thomas-Wilson, Joan M Stoler, Nuria C Bramswig, Julia Baptista, Karen Stals, Florence Demurger, Benjamin Cogne, Bertrand Isidor, Maria Francesca Bedeschi, Angela Peron, Jeanne Amiel, Elaine Zackai, John P Schacht, Alejandro D Iglesias, Jenny Morton, Ariane Schmetz, Verónica Seidel, Stephanie Lucia, Stephanie M Baskin, Isabelle Thiffault, Joy D Cogan, Christopher T Gordon, Wendy K Chung, Sarah Bowdin, Elizabeth Bho. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European journal of human genetics : EJHG. 2023-07-27. PMID:37500725. |
clinical features were variable, including intrauterine growth restriction (iugr), chd, cdh, genital anomalies, dsd, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations, thus expanding the phenotypic spectrum associated with nr2f2 variants. |
2023-07-27 |
2023-08-14 |
Not clear |
| Subhash Puthuraya, Sreenivas Karnati, Hasan Othman, Rachana Sripathi, Vanishree Nandakumar, Hany Al. Neonatal outcomes of preterm infants with in-utero exposure to drugs of substance use: US national data. Pediatrics and neonatology. 2022-10-25. PMID:36283910. |
infants exposed prenatally to drugs of substance use are at increased risk for seizures, strabismus, feeding difficulty, and neurodevelopmental delays. |
2022-10-25 |
2023-08-14 |
Not clear |
| Camille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana T Chilton, Wendy K Chung, Jill A Madden, Chanika Phornphutkul, Pankaj B Agrawal, Henry Houlden, Philippe M Campea. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clinical genetics. vol 99. issue 2. 2021-11-23. PMID:33156547. |
variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. |
2021-11-23 |
2023-08-13 |
Not clear |
| Shanyu Pi, Jiaoe Gong, Wenbiao Xiao, Bo Xiao, Xiao Mao, Hongyu Lon. The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis. Journal of human genetics. 2021-08-31. PMID:34462534. |
in this study, we report a chinese patient with a homozygous pathogenic variant in ddost (c.1187g>a) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. |
2021-08-31 |
2023-08-13 |
Not clear |
| Maria Del Carmen Pamplona, Pablo Antonio Ysunza, Jose Telich-Tarriba, Enrique Chávez-Serna, Pamela Villate-Escobar, Mariana Sterling, Alexander Cardenas-Meji. Diagnosis and treatment of speech disorders in children with Moebius syndrome. International journal of pediatric otorhinolaryngology. vol 138. 2021-06-15. PMID:32829202. |
clinical features include feeding problems, dysarthria, dysphagia, sialorrhea, strabismus, and lack of facial expression. |
2021-06-15 |
2023-08-13 |
Not clear |
| María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Elena Arranz-Canales, Ana Martínez de Aragón, Laura Hernández-Sánchez, Fátima Rodríguez-Fornés, Patricia Carnicero-Rodríguez, Montserrat Morales-Conejo, Elena Martín-Hernández, Francisco Martínez-Azorí. A novel Journal of genetics. vol 99. 2020-10-13. PMID:32089526. |
a novel we report the case of a caucasian spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. |
2020-10-13 |
2023-08-13 |
Not clear |
| Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegr. Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent. Journal of clinical and diagnostic research : JCDR. vol 11. issue 7. 2020-10-01. PMID:28892950. |
a one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation. |
2020-10-01 |
2023-08-13 |
Not clear |
| Karen Bohmwald, Janyra A Espinoza, Pablo A González, Susan M Bueno, Claudia A Riedel, Alexis M Kalergi. Central nervous system alterations caused by infection with the human respiratory syncytial virus. Reviews in medical virology. vol 24. issue 6. 2015-06-17. PMID:25316031. |
recently, neurological symptoms have also been associated with hrsv respiratory infection and include seizures, central apnea, lethargy, feeding or swallowing difficulties, abnormalities in muscle tone, strabismus, abnormalities in the csf, and encephalopathy. |
2015-06-17 |
2023-08-13 |
human |
| Courtney Sebold, Elizabeth Roeder, Marsha Zimmerman, Bridgette Soileau, Patricia Heard, Erika Carter, Martha Schatz, W Abraham White, Brian Perry, Kent Reinker, Louise O'Donnell, Jack Lancaster, John Li, Minire Hasi, Annice Hill, Lauren Pankratz, Daniel E Hale, Jannine D Cod. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. American journal of medical genetics. Part A. vol 152A. issue 9. 2010-12-15. PMID:20803640. |
findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain mri. |
2010-12-15 |
2023-08-12 |
Not clear |
| Kerry K Brown, Fowzan S Alkuraya, Michael Matos, Richard L Robertson, Virginia E Kimonis, Cynthia C Morto. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. American journal of medical genetics. Part A. vol 149A. issue 5. 2009-06-18. PMID:19353646. |
herein, we report a 4-year-old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, developmental delay, and an apparently balanced de novo paracentric chromosome 5 inversion, inv(5)(q15q33.2). |
2009-06-18 |
2023-08-12 |
mouse |
| Vibeke Westphal, Ming Xiao, Pui-Yan Kwok, Hudson H Freez. Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Human mutation. vol 22. issue 5. 2004-04-12. PMID:14517965. |
cdg-ic patients have moderate to severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties. |
2004-04-12 |
2023-08-12 |
Not clear |
| Botulinum toxin. Consensus statement. National Institutes of Health Consensus Development Conference. vol 8. issue 8. 1991-07-31. PMID:2098181. |
among their findings, the panel recommended that (1) botulinum toxin therapy is safe and effective for treating strabismus, blepharospasm, hemifacial spasm, adductor spasmodic dysphonia, jaw-closing oromandibular dystonia, and cervical dystonia; (2) botulinum toxin is not curative in chronic neurological disorders; (3) the safety of botulinum toxin therapy during pregnancy, breast feeding, and chronic use during childhood is unknown; (4) the long-term effects of chronic treatment with botulinum toxin remain unknown; and (5) botulinum toxin should be administered by committed interdisciplinary teams of physicians and related health care professionals with appropriate instrumentation. |
1991-07-31 |
2023-08-11 |
Not clear |
| B G Kousseff, T Diamond, Y Essig, K Miller, T Tedesc. Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome? American journal of medical genetics. vol 28. issue 4. 1988-01-21. PMID:3688018. |
a 16-year-old boy with prader-labhart-willi syndrome (plws) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the plws. |
1988-01-21 |
2023-08-11 |
Not clear |