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Asymmetric short stature syndrome

MedGen UID:
354753
•Concept ID:
C1862458
•
Disease or Syndrome
Synonym: Asymmetric Short Stature Syndrome
 
Monarch Initiative: MONDO:0007162
OMIM®: 108450

Professional guidelines

PubMed

Neonatal management and long-term sequelae.
Halliday HL
Best Pract Res Clin Obstet Gynaecol 2009 Dec;23(6):871-80. Epub 2009 Jul 26 doi: 10.1016/j.bpobgyn.2009.06.005. PMID: 19632899

Recent clinical studies

Etiology

The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.
Abell SK, Shorakae S, Harrison CL, Hiam D, Moreno-Asso A, Stepto NK, De Courten B, Teede HJ
Diabetes Metab Res Rev 2017 Nov;33(8) Epub 2017 Sep 15 doi: 10.1002/dmrr.2926. PMID: 28806491
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.
Abell K, May W, May PA, Kalberg W, Hoyme HE, Robinson LK, Manning M, Jones KL, Abdul-Rahman O
Am J Med Genet A 2016 Jul;170(7):1763-71. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37656. PMID: 27253440
Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.
Jhang KM, Chang TM, Chen M, Liu CS
J Med Case Rep 2014 Apr 2;8:109. doi: 10.1186/1752-1947-8-109. PMID: 24694237Free PMC Article
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Neonatal management and long-term sequelae.
Halliday HL
Best Pract Res Clin Obstet Gynaecol 2009 Dec;23(6):871-80. Epub 2009 Jul 26 doi: 10.1016/j.bpobgyn.2009.06.005. PMID: 19632899

Diagnosis

Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.
Bonaglia MC, Fichera M, Marelli S, Romaniello R, Zuffardi O
Eur J Med Genet 2022 Nov;65(11):104596. Epub 2022 Sep 5 doi: 10.1016/j.ejmg.2022.104596. PMID: 36064004
Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity.
Cammarata-Scalisi F, Callea M, Stock F, Zambito V, Sparago Á, Riccio A
Arch Argent Pediatr 2020 Jun;118(3):e258-e264. doi: 10.5546/aap.2020.eng.e258. PMID: 32470262
The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.
Abell SK, Shorakae S, Harrison CL, Hiam D, Moreno-Asso A, Stepto NK, De Courten B, Teede HJ
Diabetes Metab Res Rev 2017 Nov;33(8) Epub 2017 Sep 15 doi: 10.1002/dmrr.2926. PMID: 28806491
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.
Abell K, May W, May PA, Kalberg W, Hoyme HE, Robinson LK, Manning M, Jones KL, Abdul-Rahman O
Am J Med Genet A 2016 Jul;170(7):1763-71. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37656. PMID: 27253440
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC
Am J Med Genet A 2015 Jun;167(6):1309-14. Epub 2015 Apr 2 doi: 10.1002/ajmg.a.36899. PMID: 25846959Free PMC Article

Therapy

The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.
Abell SK, Shorakae S, Harrison CL, Hiam D, Moreno-Asso A, Stepto NK, De Courten B, Teede HJ
Diabetes Metab Res Rev 2017 Nov;33(8) Epub 2017 Sep 15 doi: 10.1002/dmrr.2926. PMID: 28806491
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.
Abell K, May W, May PA, Kalberg W, Hoyme HE, Robinson LK, Manning M, Jones KL, Abdul-Rahman O
Am J Med Genet A 2016 Jul;170(7):1763-71. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37656. PMID: 27253440
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response.
Gucev ZS, Tasic V, Jancevska A, Kirovski I
J Genet 2009 Aug;88(2):239-43. doi: 10.1007/s12041-009-0033-y. PMID: 19700863
Neonatal management and long-term sequelae.
Halliday HL
Best Pract Res Clin Obstet Gynaecol 2009 Dec;23(6):871-80. Epub 2009 Jul 26 doi: 10.1016/j.bpobgyn.2009.06.005. PMID: 19632899

Prognosis

First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome.
Hamza N, Al-Araimi M, Al Salmani K, Al Obeidani S
Sultan Qaboos Univ Med J 2023 May;23(2):264-268. Epub 2023 May 31 doi: 10.18295/squmj.4.2022.033. PMID: 37377828Free PMC Article
The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.
Abell SK, Shorakae S, Harrison CL, Hiam D, Moreno-Asso A, Stepto NK, De Courten B, Teede HJ
Diabetes Metab Res Rev 2017 Nov;33(8) Epub 2017 Sep 15 doi: 10.1002/dmrr.2926. PMID: 28806491
Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.
Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM
Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27 doi: 10.1016/j.ejmg.2010.05.003. PMID: 20553986
Neonatal management and long-term sequelae.
Halliday HL
Best Pract Res Clin Obstet Gynaecol 2009 Dec;23(6):871-80. Epub 2009 Jul 26 doi: 10.1016/j.bpobgyn.2009.06.005. PMID: 19632899
Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.
Johnson AW, Mokuolu OA
J Natl Med Assoc 2001 May;93(5):185-94. PMID: 11405596Free PMC Article

Clinical prediction guides

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
Kodytková A, Amaratunga SA, Zemková D, Maratová K, Dušátková P, Plachý L, Průhová Š, Koloušková S, Lebl J
Horm Res Paediatr 2024;97(2):203-210. Epub 2023 Aug 23 doi: 10.1159/000531996. PMID: 37611564
Kinesin-7 CENP-E regulates cell division, gastrulation and organogenesis in development.
Yu KW, She ZY, Wei YL, Zhong N
Eur J Cell Biol 2020 Aug;99(6):151107. Epub 2020 Jul 11 doi: 10.1016/j.ejcb.2020.151107. PMID: 32800279
The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes.
Abell SK, Shorakae S, Harrison CL, Hiam D, Moreno-Asso A, Stepto NK, De Courten B, Teede HJ
Diabetes Metab Res Rev 2017 Nov;33(8) Epub 2017 Sep 15 doi: 10.1002/dmrr.2926. PMID: 28806491
Neonatal management and long-term sequelae.
Halliday HL
Best Pract Res Clin Obstet Gynaecol 2009 Dec;23(6):871-80. Epub 2009 Jul 26 doi: 10.1016/j.bpobgyn.2009.06.005. PMID: 19632899
Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient.
Derose CJ, Jeffrey A
Optometry 2001 Oct;72(10):641-8. PMID: 11712631

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