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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"
Page 1
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
Corpus callosum abnormalities appear less frequently than suggested by previous observations. ...However, the syndrome may be suspected based on some recurrent, recognisable features. Corpus callosum anomalies were not as constant as previously …
Corpus callosum abnormalities appear less frequently than suggested by previous observations. ...However, the syndrome …
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK. Park H, et al. Neuro Endocrinol Lett. 2021 Jan;41(6):285-289. Neuro Endocrinol Lett. 2021. PMID: 33714239
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. ...A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial featu …
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, con …
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
Kalmár T, Maróti Z, Zimmermann A, Sztriha L. Kalmár T, et al. Brain Dev. 2021 Jan;43(1):144-151. doi: 10.1016/j.braindev.2020.07.015. Epub 2020 Aug 11. Brain Dev. 2021. PMID: 32798076 Free article.
Intrauterine and postnatal growth retardation, microcephaly, global developmental delay and profound intellectual disability were also noticed. Blood fasting ammonia level, plasma proline, ornithine and arginine levels were normal, while citrulline level was slightl …
Intrauterine and postnatal growth retardation, microcephaly, global developmental delay and profound intellectual disability w …
A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T. Takagi M, et al. Eur J Med Genet. 2013 Sep;56(9):526-8. doi: 10.1016/j.ejmg.2013.05.012. Epub 2013 Jul 26. Eur J Med Genet. 2013. PMID: 23895774
We identified 2.0 Mb of a novel deletion on chromosome 14q12, involving 8 genes and putative regulatory elements of FOXG1 by array CGH in a patient with severe growth and psychomotor retardation, hypotonia, microcephaly, dysmorphic face, and hypoplasia …
We identified 2.0 Mb of a novel deletion on chromosome 14q12, involving 8 genes and putative regulatory elements of FOXG1 by array CGH in a …
A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.
Yang F, Ding Y, Wang Y, Zhang Q, Li H, Yu T, Chang G, Wang X. Yang F, et al. Medicine (Baltimore). 2024 Jan 12;103(2):e35908. doi: 10.1097/MD.0000000000035908. Medicine (Baltimore). 2024. PMID: 38215144 Free PMC article. Review.
It is noteworthy that only 31 cases of this disorder have been reported thus far. As the symptom severity may differ, doctors may face challenges in diagnosing it accurately. ...However, he did not have growth retardation, microcephaly, corpus …
It is noteworthy that only 31 cases of this disorder have been reported thus far. As the symptom severity may differ, doctors may …
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki M, Aoki Y, Matsubara Y. Aizaki K, et al. Brain Dev. 2011 Feb;33(2):166-9. doi: 10.1016/j.braindev.2010.03.008. Epub 2010 Apr 14. Brain Dev. 2011. PMID: 20395089
Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seiz …
Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus …
A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay.
Braddock SR, Carey JC. Braddock SR, et al. Clin Dysmorphol. 1994 Jan;3(1):75-81. Clin Dysmorphol. 1994. PMID: 7515754
Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has menta …
Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus …
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592
We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilica …
We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bi …
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
Lalani SR, Sahoo T, Sanders ME, Peters SU, Bejjani BA. Lalani SR, et al. BMC Med Genet. 2006 Feb 10;7:8. doi: 10.1186/1471-2350-7-8. BMC Med Genet. 2006. PMID: 16472378 Free PMC article.
To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have common features of growth retardation, hypotonia and moderate to severe mental retardation. ...CASE PRES …
To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these in …
New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.
Guion-Almeida ML, Richieri-Costa A. Guion-Almeida ML, et al. Am J Med Genet. 1999 Nov 26;87(3):237-44. doi: 10.1002/(sici)1096-8628(19991126)87:3<237::aid-ajmg8>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10564877
We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, …
We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous …