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Absent knee epiphyses

MedGen UID:
347152
Concept ID:
C1859462
Finding
Synonym: Absent knee end part
 
HPO: HP:0006400

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent knee epiphyses

Conditions with this feature

Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).

Recent clinical studies

Etiology

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Lichtenberger-Geslin L, Dos Santos S, Hassani Y, Ecosse E, Van Den Abbeele T, Léger J
J Clin Endocrinol Metab 2013 Sep;98(9):3644-52. Epub 2013 Jun 18 doi: 10.1210/jc.2013-1645. PMID: 23780375
Savino A, Carinci S, Bucci I, Sabatino G, Chiarelli F, Tumini S
Ultraschall Med 2011 Dec;32 Suppl 2:E129-33. Epub 2011 Dec 22 doi: 10.1055/s-0031-1281972. PMID: 22194047
Van Vliet G, Larroque B, Bubuteishvili L, Supernant K, Léger J; Association of Française pour le Dépistage et la Prévention des Handicaps de l'Enfant
J Clin Endocrinol Metab 2003 May;88(5):2009-13. doi: 10.1210/jc.2002-021735. PMID: 12727946
Laor T, Jaramillo D, Hoffer FA, Kasser JR
Pediatr Radiol 1996;26(6):381-7. doi: 10.1007/BF01387310. PMID: 8657473

Diagnosis

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Eugène D, Djemli A, Van Vliet G
J Clin Endocrinol Metab 2005 May;90(5):2696-700. Epub 2005 Feb 22 doi: 10.1210/jc.2004-2320. PMID: 15728201
Van Vliet G, Larroque B, Bubuteishvili L, Supernant K, Léger J; Association of Française pour le Dépistage et la Prévention des Handicaps de l'Enfant
J Clin Endocrinol Metab 2003 May;88(5):2009-13. doi: 10.1210/jc.2002-021735. PMID: 12727946
Ballas MT, Tytko J, Mannarino F
Am Fam Physician 1998 Jan 15;57(2):267-74. PMID: 9456991
Laor T, Jaramillo D, Hoffer FA, Kasser JR
Pediatr Radiol 1996;26(6):381-7. doi: 10.1007/BF01387310. PMID: 8657473

Therapy

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Lee JH, Wang SI, Choi HR, Hwang BY, Lim YJ, Wie JS, Huh SH
Knee Surg Sports Traumatol Arthrosc 2011 Apr;19(4):556-8. Epub 2010 Sep 2 doi: 10.1007/s00167-010-1252-8. PMID: 20811875
Burdan F
Cells Tissues Organs 2002;171(2-3):145-51. doi: 10.1159/000063708. PMID: 12097837

Prognosis

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Lichtenberger-Geslin L, Dos Santos S, Hassani Y, Ecosse E, Van Den Abbeele T, Léger J
J Clin Endocrinol Metab 2013 Sep;98(9):3644-52. Epub 2013 Jun 18 doi: 10.1210/jc.2013-1645. PMID: 23780375
Savino A, Carinci S, Bucci I, Sabatino G, Chiarelli F, Tumini S
Ultraschall Med 2011 Dec;32 Suppl 2:E129-33. Epub 2011 Dec 22 doi: 10.1055/s-0031-1281972. PMID: 22194047
Lee JH, Wang SI, Choi HR, Hwang BY, Lim YJ, Wie JS, Huh SH
Knee Surg Sports Traumatol Arthrosc 2011 Apr;19(4):556-8. Epub 2010 Sep 2 doi: 10.1007/s00167-010-1252-8. PMID: 20811875
DeLullo JA, Thomas E, Cooney TE, McConnell SJ, Sanders JO
Clin Orthop Relat Res 2007 Apr;457:163-70. doi: 10.1097/BLO.0b013e31802d8aaa. PMID: 17119459

Clinical prediction guides

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Lichtenberger-Geslin L, Dos Santos S, Hassani Y, Ecosse E, Van Den Abbeele T, Léger J
J Clin Endocrinol Metab 2013 Sep;98(9):3644-52. Epub 2013 Jun 18 doi: 10.1210/jc.2013-1645. PMID: 23780375
Savino A, Carinci S, Bucci I, Sabatino G, Chiarelli F, Tumini S
Ultraschall Med 2011 Dec;32 Suppl 2:E129-33. Epub 2011 Dec 22 doi: 10.1055/s-0031-1281972. PMID: 22194047
DeLullo JA, Thomas E, Cooney TE, McConnell SJ, Sanders JO
Clin Orthop Relat Res 2007 Apr;457:163-70. doi: 10.1097/BLO.0b013e31802d8aaa. PMID: 17119459
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987

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