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37 results

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Page 1
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome (47, XYY mal …
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congeni …
Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.
Guo Y, Zhang H, Fan L, Chen J, Zhang X, Yang H, Sun Y. Guo Y, et al. BMC Pregnancy Childbirth. 2022 Jan 17;22(1):42. doi: 10.1186/s12884-021-04309-z. BMC Pregnancy Childbirth. 2022. PMID: 35038998 Free PMC article. Review.
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. ...The genetic testing results of the larger baby indicated of Simpson-Golabi-Behmel syndrome. CONCLUSION: SGBS is difficult to diagno …
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. ...The genetic testing …
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Cottereau E, et al. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23606591 Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformation …
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability …
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.
Halayem S, Hamza M, Maazoul F, Ben Turkia H, Touati M, Tebib N, Mrad R, Bouden A. Halayem S, et al. Am J Med Genet A. 2016 Apr;170A(4):1035-9. doi: 10.1002/ajmg.a.37518. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692054 Review.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. ...
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, f …
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.
Garganta CL, Bodurtha JN. Garganta CL, et al. Am J Med Genet. 1992 Sep 15;44(2):129-35. doi: 10.1002/ajmg.1320440202. Am J Med Genet. 1992. PMID: 1456279 Review.
Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple …
Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a d …
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. ...
The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel …
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.
Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Lin AE, et al. Am J Med Genet. 1999 Apr 23;83(5):378-81. Am J Med Genet. 1999. PMID: 10232747 Review.
Diverse cardiac abnormalities have been reported in patients with the Simpson-Golabi-Behmel syndrome (SGBS), and it is suspected that they are related to the apparently high incidence of early death. ...
Diverse cardiac abnormalities have been reported in patients with the Simpson-Golabi-Behmel syndrome (SGBS), and …
Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
Liu J, Liu Q, Yang S, Ma N, Pang J, Peng Y, Xi H, Jia Z, Luo Y, Jiang M, Teng Y, Yu W, Li Z, Wang H. Liu J, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1750. doi: 10.1002/mgg3.1750. Epub 2021 Jul 22. Mol Genet Genomic Med. 2021. PMID: 34293831 Free PMC article. Review.
BACKGROUND: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and …
BACKGROUND: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder ch …
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G. Vaisfeld A, et al. Am J Med Genet A. 2017 Jan;173(1):285-288. doi: 10.1002/ajmg.a.38003. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739211 Review.
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. ...
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, …
37 results