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Marked delay in bone age

MedGen UID:
401468
Concept ID:
C1868549
Finding
Synonyms: Marked retardation in skeletal maturation; Markedly retarded bone age
 
HPO: HP:0003799

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMarked delay in bone age

Conditions with this feature

Epiphyseal dysplasia, Baumann type
MedGen UID:
322764
Concept ID:
C1835830
Disease or Syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
MedGen UID:
394816
Concept ID:
C2678408
Disease or Syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).

Professional guidelines

PubMed

Gunn KC, Cutfield WS, Hofman PL, Jefferies CA, Albert BB, Gunn AJ
Sci Rep 2014 Aug 14;4:6061. doi: 10.1038/srep06061. PMID: 25317732Free PMC Article
Brufsky AM
Oncologist 2008 Feb;13(2):187-95. doi: 10.1634/theoncologist.2007-0152. PMID: 18305064
Cole TR, Hughes HE
J Med Genet 1994 Jan;31(1):20-32. doi: 10.1136/jmg.31.1.20. PMID: 7512144Free PMC Article

Recent clinical studies

Etiology

Torlińska-Walkowiak N, Majewska KA, Sowińska A, Kędzia A, Opydo-Szymaczek J
Clin Oral Investig 2022 Oct;26(10):6165-6175. Epub 2022 Jun 11 doi: 10.1007/s00784-022-04566-y. PMID: 35690690
Din TF, Fagan JJ, Peer S
S Afr J Surg 2022 Mar;60(1):62-66. PMID: 35451273
Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, Bhatia P, Sharma V, Bhattad S, Chengappa KG, Gupta V, Misra DP, Chavan PP, Malaviya S, Dudam R, Sharma B, Kumar S, Bhojwani R, Gupta P, Agarwal V, Sharma K, Singhal M, Rathi M, Nada R, Minz RW, Chaturvedi V, Aggarwal A, Handa R, Grossi A, Gattorno M, Huang Z, Wang J, Jois R, Negi VS, Khubchandani R, Jain S, Arostegui JI, Chambers EP, Hershfield MS, Aksentijevich I, Zhou Q, Lee PY
Arthritis Rheumatol 2021 Feb;73(2):276-285. Epub 2020 Dec 26 doi: 10.1002/art.41500. PMID: 32892503Free PMC Article
Rathnayake H, Lekamwasam S, Wickramatilake C, Lenora J
Arch Osteoporos 2019 Aug 20;14(1):91. doi: 10.1007/s11657-019-0640-z. PMID: 31432256
White PH
Clin Orthop Relat Res 1990 Oct;(259):46-50. PMID: 2208873

Diagnosis

Torlińska-Walkowiak N, Majewska KA, Sowińska A, Kędzia A, Opydo-Szymaczek J
Clin Oral Investig 2022 Oct;26(10):6165-6175. Epub 2022 Jun 11 doi: 10.1007/s00784-022-04566-y. PMID: 35690690
Din TF, Fagan JJ, Peer S
S Afr J Surg 2022 Mar;60(1):62-66. PMID: 35451273
Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, Bhatia P, Sharma V, Bhattad S, Chengappa KG, Gupta V, Misra DP, Chavan PP, Malaviya S, Dudam R, Sharma B, Kumar S, Bhojwani R, Gupta P, Agarwal V, Sharma K, Singhal M, Rathi M, Nada R, Minz RW, Chaturvedi V, Aggarwal A, Handa R, Grossi A, Gattorno M, Huang Z, Wang J, Jois R, Negi VS, Khubchandani R, Jain S, Arostegui JI, Chambers EP, Hershfield MS, Aksentijevich I, Zhou Q, Lee PY
Arthritis Rheumatol 2021 Feb;73(2):276-285. Epub 2020 Dec 26 doi: 10.1002/art.41500. PMID: 32892503Free PMC Article
Rathnayake H, Lekamwasam S, Wickramatilake C, Lenora J
Arch Osteoporos 2019 Aug 20;14(1):91. doi: 10.1007/s11657-019-0640-z. PMID: 31432256
Zeng J, Liu H, Liu L, Liao W, Hu P, Wang X, Li X, Sun L, Zhang Y, Yi X
Dentomaxillofac Radiol 2018 Jul;47(6):20170459. Epub 2018 Apr 23 doi: 10.1259/dmfr.20170459. PMID: 29658783Free PMC Article

Therapy

Torlińska-Walkowiak N, Majewska KA, Sowińska A, Kędzia A, Opydo-Szymaczek J
Clin Oral Investig 2022 Oct;26(10):6165-6175. Epub 2022 Jun 11 doi: 10.1007/s00784-022-04566-y. PMID: 35690690
Sharma A, Naidu G, Sharma V, Jha S, Dhooria A, Dhir V, Bhatia P, Sharma V, Bhattad S, Chengappa KG, Gupta V, Misra DP, Chavan PP, Malaviya S, Dudam R, Sharma B, Kumar S, Bhojwani R, Gupta P, Agarwal V, Sharma K, Singhal M, Rathi M, Nada R, Minz RW, Chaturvedi V, Aggarwal A, Handa R, Grossi A, Gattorno M, Huang Z, Wang J, Jois R, Negi VS, Khubchandani R, Jain S, Arostegui JI, Chambers EP, Hershfield MS, Aksentijevich I, Zhou Q, Lee PY
Arthritis Rheumatol 2021 Feb;73(2):276-285. Epub 2020 Dec 26 doi: 10.1002/art.41500. PMID: 32892503Free PMC Article
Rathnayake H, Lekamwasam S, Wickramatilake C, Lenora J
Arch Osteoporos 2019 Aug 20;14(1):91. doi: 10.1007/s11657-019-0640-z. PMID: 31432256
Stimpson SJ, Rebele EC, DeBaun MR
Expert Rev Hematol 2016;9(2):187-96. Epub 2015 Dec 29 doi: 10.1586/17474086.2016.1126177. PMID: 26613137
Stathopoulos IP, Liakou CG, Katsalira A, Trovas G, Lyritis GG, Papaioannou NA, Tournis S
Hormones (Athens) 2011 Oct-Dec;10(4):280-91. doi: 10.14310/horm.2002.1319. PMID: 22281884

Prognosis

Dinçkol Ö, Fuentes B, Tartaglione AM, Pino A, Calamandrei G, Ricceri L
Neurotoxicology 2022 Jul;91:188-199. Epub 2022 May 13 doi: 10.1016/j.neuro.2022.05.007. PMID: 35577142
Cundy T, Rutland MD, Naot D, Bolland M
Clin Endocrinol (Oxf) 2015 Sep;83(3):315-9. Epub 2015 Mar 6 doi: 10.1111/cen.12741. PMID: 25664955
Basta NO, James PW, Gomez-Pozo B, Craft AW, McNally RJ
Br J Cancer 2011 Oct 25;105(9):1402-8. Epub 2011 Sep 20 doi: 10.1038/bjc.2011.341. PMID: 21934684Free PMC Article
Prabhakaran R, Misra M, Miller KK, Kruczek K, Sundaralingam S, Herzog DB, Katzman DK, Klibanski A
Pediatrics 2008 Jun;121(6):e1517-23. doi: 10.1542/peds.2007-2820. PMID: 18519455
Greer FR, McCormick A
Am J Dis Child 1987 Feb;141(2):179-83. doi: 10.1001/archpedi.1987.04460020069029. PMID: 3812385

Clinical prediction guides

Ding H, Mo ZQ, Xu H, Zhang YM, Yuan WZ, Zeng ZS
Curr Med Imaging 2023;19(11):1308-1314. doi: 10.2174/1573405619666230213114231. PMID: 36788682
Dinçkol Ö, Fuentes B, Tartaglione AM, Pino A, Calamandrei G, Ricceri L
Neurotoxicology 2022 Jul;91:188-199. Epub 2022 May 13 doi: 10.1016/j.neuro.2022.05.007. PMID: 35577142
Rathnayake H, Lekamwasam S, Wickramatilake C, Lenora J
Arch Osteoporos 2019 Aug 20;14(1):91. doi: 10.1007/s11657-019-0640-z. PMID: 31432256
Zeng J, Liu H, Liu L, Liao W, Hu P, Wang X, Li X, Sun L, Zhang Y, Yi X
Dentomaxillofac Radiol 2018 Jul;47(6):20170459. Epub 2018 Apr 23 doi: 10.1259/dmfr.20170459. PMID: 29658783Free PMC Article
Stathopoulos IP, Liakou CG, Katsalira A, Trovas G, Lyritis GG, Papaioannou NA, Tournis S
Hormones (Athens) 2011 Oct-Dec;10(4):280-91. doi: 10.14310/horm.2002.1319. PMID: 22281884

Recent systematic reviews

Lerch C, Meissner T
Cochrane Database Syst Rev 2007 Oct 17;2007(4):CD006164. doi: 10.1002/14651858.CD006164.pub2. PMID: 17943890Free PMC Article

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