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Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.
Tanaka H, Ito J, Cho K, Mikawa M. Tanaka H, et al. Pediatr Neurol. 1993 Nov-Dec;9(6):479-81. doi: 10.1016/0887-8994(93)90029-c. Pediatr Neurol. 1993. PMID: 7605558 Review.
Patients with similar clinical features have been reported and they appear to exhibit the recently identified Goldberg-Shprintzen syndrome. It is believed that this girl also exhibits this new syndrome. ...
Patients with similar clinical features have been reported and they appear to exhibit the recently identified Goldberg-Shprintzen …
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. ...
We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a co …
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ. Mowat DR, et al. J Med Genet. 1998 Aug;35(8):617-23. doi: 10.1136/jmg.35.8.617. J Med Genet. 1998. PMID: 9719364 Free PMC article.
In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families....
In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal r …
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Isidor B, et al. Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715367
We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of Ohdo syn …
We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn …
Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.
Shahar E, Shinawi M. Shahar E, et al. Pediatr Neurol. 2003 May;28(5):385-91. doi: 10.1016/s0887-8994(03)00010-9. Pediatr Neurol. 2003. PMID: 12878302
The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associa …
The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dys …