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Macrocephaly, macrosomia, facial dysmorphism syndrome

MedGen UID:
432842
•Concept ID:
CN068456
•
Disease or Syndrome

Professional guidelines

PubMed

Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
Muhsin E, Basak G, Banu D, Alper G, Mustafa S
J Mol Neurosci 2022 Jan;72(1):149-157. Epub 2021 Aug 12 doi: 10.1007/s12031-021-01897-5. PMID: 34386909

Recent clinical studies

Etiology

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome.
Bayram M, Yildirim M, Seymen F
Eur Arch Paediatr Dent 2015 Feb;16(1):63-6. Epub 2014 Sep 23 doi: 10.1007/s40368-014-0141-0. PMID: 25245233
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
Lin AE, O'Brien B, Demmer LA, Almeda KK, Blanco CL, Glasow PF, Berul CI, Hamilton R, Micheil Innes A, Lauzon JL, Sol-Church K, Gripp KW
Prenat Diagn 2009 Jul;29(7):682-90. doi: 10.1002/pd.2276. PMID: 19382114Free PMC Article
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
Yano S, Watanabe Y
Am J Med Genet 2001 Aug 1;102(2):149-52. doi: 10.1002/ajmg.1428. PMID: 11477607
Weaver syndrome: autosomal dominant inheritance of the disorder.
Proud VK, Braddock SR, Cook L, Weaver DD
Am J Med Genet 1998 Oct 2;79(4):305-10. doi: 10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v. PMID: 9781912

Diagnosis

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
Prenatal findings in cardio-facio-cutaneous syndrome.
Templin L, Baumann C, Busa T, Heckenroth H, Pouvreau N, Toutain A, Cave H, Verloes A, Sigaudy S, Philip N
Am J Med Genet A 2016 Feb;170A(2):441-445. Epub 2015 Oct 22 doi: 10.1002/ajmg.a.37420. PMID: 26494162
A new case of MOMO syndrome.
Wallerstein R, Sugalski RD
Clin Dysmorphol 2010 Jan;19(1):1-4. doi: 10.1097/MCD.0b013e32831552a8. PMID: 19996736
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
Lin AE, O'Brien B, Demmer LA, Almeda KK, Blanco CL, Glasow PF, Berul CI, Hamilton R, Micheil Innes A, Lauzon JL, Sol-Church K, Gripp KW
Prenat Diagn 2009 Jul;29(7):682-90. doi: 10.1002/pd.2276. PMID: 19382114Free PMC Article
Perlman syndrome: clinical report and nine-year follow-up.
Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G
Am J Med Genet A 2005 Dec 1;139A(2):131-5. doi: 10.1002/ajmg.a.30994. PMID: 16278893

Prognosis

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
Prenatal findings in cardio-facio-cutaneous syndrome.
Templin L, Baumann C, Busa T, Heckenroth H, Pouvreau N, Toutain A, Cave H, Verloes A, Sigaudy S, Philip N
Am J Med Genet A 2016 Feb;170A(2):441-445. Epub 2015 Oct 22 doi: 10.1002/ajmg.a.37420. PMID: 26494162
Perlman syndrome: clinical report and nine-year follow-up.
Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G
Am J Med Genet A 2005 Dec 1;139A(2):131-5. doi: 10.1002/ajmg.a.30994. PMID: 16278893
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
Yano S, Watanabe Y
Am J Med Genet 2001 Aug 1;102(2):149-52. doi: 10.1002/ajmg.1428. PMID: 11477607
A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits.
Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G
Am J Med Genet 2000 Mar 6;91(1):29-33. doi: 10.1002/(sici)1096-8628(20000306)91:1<29::aid-ajmg5>3.0.co;2-u. PMID: 10751085

Clinical prediction guides

Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
Muhsin E, Basak G, Banu D, Alper G, Mustafa S
J Mol Neurosci 2022 Jan;72(1):149-157. Epub 2021 Aug 12 doi: 10.1007/s12031-021-01897-5. PMID: 34386909
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.
Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-François L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L
Eur J Med Genet 2006 Nov-Dec;49(6):466-71. Epub 2006 Jun 12 doi: 10.1016/j.ejmg.2006.05.001. PMID: 16807158

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    • ClinVar
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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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