Etiology
Yang DD,
Rio M,
Michot C,
Boddaert N,
Yacoub W,
Garcelon N,
Thierry B,
Bonnet D,
Rondeau S,
Herve D,
Guey S,
Angoulvant F,
Cormier-Daire V
Orphanet J Rare Dis
2022 Jul 30;17(1):304.
doi: 10.1186/s13023-022-02447-x.
PMID: 35907855Free PMC Article
Mäkitie RE,
Toiviainen-Salo S,
Kaitila I,
Mäkitie O
Front Endocrinol (Lausanne)
2022;13:845889.
Epub 2022 Mar 3
doi: 10.3389/fendo.2022.845889.
PMID: 35311234Free PMC Article
Jurcă MC,
Jurcă SI,
Mirodot F,
Bercea B,
Severin EM,
Bembea M,
Jurcă AD
Rom J Morphol Embryol
2021 Jul-Sep;62(3):689-696.
doi: 10.47162/RJME.62.3.05.
PMID: 35263396Free PMC Article
Uttarilli A,
Shah H,
Shukla A,
Girisha KM
J Postgrad Med
2018 Apr-Jun;64(2):98-103.
doi: 10.4103/jpgm.JPGM_527_17.
PMID: 29692401Free PMC Article
Schoch B,
Werthel JD,
Sanchez-Sotelo J,
Sperling JW,
Cofield RH,
Morrey M
Int Orthop
2017 Oct;41(10):2129-2134.
Epub 2017 Aug 7
doi: 10.1007/s00264-017-3588-x.
PMID: 28782076
Diagnosis
Sarac Sivrikoz T,
Kalayci T,
Senturk L,
Karaman V,
Kalelioglu IH,
Has R,
Kayserili H,
Uyguner ZO,
Nishimura G,
Altunoglu U
Prenat Diagn
2022 Nov;42(12):1503-1510.
Epub 2022 Jul 20
doi: 10.1002/pd.6208.
PMID: 35808914
Roessler HI,
Shields K,
Grange DK,
Knoers NVAM,
van Haaften G,
Hammond P,
van Haelst MM
Am J Med Genet A
2020 May;182(5):1041-1052.
Epub 2020 Feb 26
doi: 10.1002/ajmg.a.61517.
PMID: 32100467Free PMC Article
Liu A,
McEntee J
Pediatr Rev
2019 Aug;40(8):435-438.
doi: 10.1542/pir.2017-0340.
PMID: 31371639
Lewis LE,
Ramesh Bhat Y,
Naik P,
Sethi K,
Girisha KM
Indian J Pediatr
2010 May;77(5):567-8.
Epub 2010 Mar 19
doi: 10.1007/s12098-010-0043-z.
PMID: 20422326
Stanescu V,
Stanescu R,
Maroteaux P
J Bone Joint Surg Am
1984 Jul;66(6):817-36.
doi: 10.2106/00004623-198466060-00002.
PMID: 6376516
Therapy
Ouedraogo ZG,
Janel C,
Janin A,
Millat G,
Langlais S,
Pontier B,
Biard M,
Lepage M,
Francannet C,
Laffargue F,
Creveaux I
Genes (Basel)
2024 Feb 10;15(2)
doi: 10.3390/genes15020225.
PMID: 38397214Free PMC Article
Tise CG,
Perry JA,
Anforth LE,
Pavlovich MA,
Backman JD,
Ryan KA,
Lewis JP,
O'Connell JR,
Yerges-Armstrong LM,
Shuldiner AR
G3 (Bethesda)
2016 Sep 8;6(9):2909-18.
doi: 10.1534/g3.116.032979.
PMID: 27412988Free PMC Article
Menezes AH
Childs Nerv Syst
2008 Oct;24(10):1169-72.
Epub 2008 Apr 10
doi: 10.1007/s00381-008-0602-z.
PMID: 18401562
Bicknell LS,
Farrington-Rock C,
Shafeghati Y,
Rump P,
Alanay Y,
Alembik Y,
Al-Madani N,
Firth H,
Karimi-Nejad MH,
Kim CA,
Leask K,
Maisenbacher M,
Moran E,
Pappas JG,
Prontera P,
de Ravel T,
Fryns JP,
Sweeney E,
Fryer A,
Unger S,
Wilson LC,
Lachman RS,
Rimoin DL,
Cohn DH,
Krakow D,
Robertson SP
J Med Genet
2007 Feb;44(2):89-98.
Epub 2006 Jun 26
doi: 10.1136/jmg.2006.043687.
PMID: 16801345Free PMC Article
Chiavetta JB,
Parvizi J,
Shaughnessy WJ,
Cabanela ME
J Bone Joint Surg Am
2004 Feb;86(2):298-304.
doi: 10.2106/00004623-200402000-00012.
PMID: 14960674
Prognosis
Mäkitie RE,
Toiviainen-Salo S,
Kaitila I,
Mäkitie O
Front Endocrinol (Lausanne)
2022;13:845889.
Epub 2022 Mar 3
doi: 10.3389/fendo.2022.845889.
PMID: 35311234Free PMC Article
Jurcă MC,
Jurcă SI,
Mirodot F,
Bercea B,
Severin EM,
Bembea M,
Jurcă AD
Rom J Morphol Embryol
2021 Jul-Sep;62(3):689-696.
doi: 10.47162/RJME.62.3.05.
PMID: 35263396Free PMC Article
Sawai H,
Oka K,
Ushioda M,
Nishimura G,
Omori T,
Numabe H,
Kosugi S
Pediatr Int
2019 Aug;61(8):748-753.
Epub 2019 Aug 27
doi: 10.1111/ped.13927.
PMID: 31247124Free PMC Article
Schoch B,
Werthel JD,
Sanchez-Sotelo J,
Sperling JW,
Cofield RH,
Morrey M
Int Orthop
2017 Oct;41(10):2129-2134.
Epub 2017 Aug 7
doi: 10.1007/s00264-017-3588-x.
PMID: 28782076
Stanescu V,
Stanescu R,
Maroteaux P
J Bone Joint Surg Am
1984 Jul;66(6):817-36.
doi: 10.2106/00004623-198466060-00002.
PMID: 6376516
Clinical prediction guides
Mäkitie RE,
Toiviainen-Salo S,
Kaitila I,
Mäkitie O
Front Endocrinol (Lausanne)
2022;13:845889.
Epub 2022 Mar 3
doi: 10.3389/fendo.2022.845889.
PMID: 35311234Free PMC Article
Bhattacharya S,
Li J,
Sockell A,
Kan MJ,
Bava FA,
Chen SC,
Ávila-Arcos MC,
Ji X,
Smith E,
Asadi NB,
Lachman RS,
Lam HYK,
Bustamante CD,
Butte AJ,
Nolan GP
Genome Res
2018 Apr;28(4):423-431.
Epub 2018 Mar 22
doi: 10.1101/gr.223693.117.
PMID: 29567674Free PMC Article
Keppler-Noreuil KM,
Adam MP,
Welch J,
Muilenburg A,
Willing MC
Am J Med Genet A
2011 May;155A(5):1021-32.
Epub 2011 Apr 4
doi: 10.1002/ajmg.a.33892.
PMID: 21465651
Lewis LE,
Ramesh Bhat Y,
Naik P,
Sethi K,
Girisha KM
Indian J Pediatr
2010 May;77(5):567-8.
Epub 2010 Mar 19
doi: 10.1007/s12098-010-0043-z.
PMID: 20422326
Stevens JW
Iowa Orthop J
1999;19:53-65.
PMID: 10847517Free PMC Article