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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"
Page 1
Natural history of Myhre syndrome.
Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V. Yang DD, et al. Orphanet J Rare Dis. 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. Orphanet J Rare Dis. 2022. PMID: 35907855 Free PMC article.
BACKGROUND: Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. ...Intrauterine and postnatal growth retardation were consistently reported. In …
BACKGROUND: Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limit …
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and …
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior p …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and enough data are available to recognize these postnatal microcephaly disorders as separate diagnostic entities in their own right. .. …
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and …
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K. Schneeberger PE, et al. Am J Hum Genet. 2020 Dec 3;107(6):1044-1061. doi: 10.1016/j.ajhg.2020.10.007. Epub 2020 Nov 6. Am J Hum Genet. 2020. PMID: 33159882 Free PMC article.
We report bi-allelic pathogenic variants in HS2ST1 in four individuals from three unrelated families. Affected individuals showed facial dysmorphism with coarse face, upslanted palpebral fissures, broad nasal tip, and wide mouth, developmental delay and/or intellect …
We report bi-allelic pathogenic variants in HS2ST1 in four individuals from three unrelated families. Affected individuals showed facial …
A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
Ganjavi H, Siu VM, Speevak M, MacDonald PA. Ganjavi H, et al. BMJ Case Rep. 2014 Nov 12;2014:bcr2014207501. doi: 10.1136/bcr-2014-207501. BMJ Case Rep. 2014. PMID: 25391829 Free PMC article. Review.
Feingold syndrome (FGLDS1) is an autosomal dominant disorder caused by mutations in the MYCN oncogene on the short arm of chromosome 2 (2p24.1). ...In 2011, individuals sharing the skeletal abnormalities of FGLDS1 but lacking mutations in MYCN, were found to …
Feingold syndrome (FGLDS1) is an autosomal dominant disorder caused by mutations in the MYCN oncogene on the short arm of chromosome …
Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).
Walters-Sen LC, Windemuth K, Angione K, Nandhlal J, Milunsky JM. Walters-Sen LC, et al. Eur J Med Genet. 2015 May;58(5):305-9. doi: 10.1016/j.ejmg.2015.03.004. Epub 2015 Apr 6. Eur J Med Genet. 2015. PMID: 25858703
Patients with duplications in this region present with intellectual disability/developmental delay (ID/DD) and dysmorphic facies. In addition, skeletal and brain abnormalities have been variably reported, as well as propensity for obesity in adu …
Patients with duplications in this region present with intellectual disability/developmental delay (ID/DD) and dysmorphic facies …
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H. Herenger Y, et al. Eur J Med Genet. 2015 Sep;58(9):479-87. doi: 10.1016/j.ejmg.2015.07.004. Epub 2015 Jul 15. Eur J Med Genet. 2015. PMID: 26188272
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. . …
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hyp …