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Abnormal rib ossification

MedGen UID:
868558
•Concept ID:
C4022957
•
Finding
Synonym: Abnormal maturation of rib bones
 
HPO: HP:0012306

Definition

An anomaly of the process of rib bone formation. [from HPO]

Professional guidelines

PubMed

The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Prenatal sonographic diagnosis of skeletal dysplasias.
Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B
Ultrasound Obstet Gynecol 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359. PMID: 19548204
Trisomy 21 in newborn infants: chest radiographic diagnosis.
Edwards DK 3rd, Berry CC, Hilton SW
Radiology 1988 May;167(2):317-8. doi: 10.1148/radiology.167.2.2965816. PMID: 2965816

Recent clinical studies

Etiology

Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.
Lingaraju N, Nagarathna PJ, Vijayalakshmi R, Sheshadri P
J Contemp Dent Pract 2013 Jan 1;14(1):140-2. doi: 10.5005/jp-journals-10024-1288. PMID: 23579912
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias.
Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS
Pediatr Radiol 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. PMID: 11200997
Ischiospinal dysostosis with rib gaps and nephroblastomatosis.
Spranger J, Self S, Clarkson KB, Pai GS
Clin Dysmorphol 2001 Jan;10(1):19-23. doi: 10.1097/00019605-200101000-00004. PMID: 11152142
Non-Majewski short rib-polydactyly syndrome.
Sillence DO
Am J Med Genet 1980;7(2):223-9. doi: 10.1002/ajmg.1320070215. PMID: 7468650
The spine in osteogenesis imperfecta.
Benson DR, Donaldson DH, Millar EA
J Bone Joint Surg Am 1978 Oct;60(7):925-9. PMID: 701340

Diagnosis

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P
Cesk Patol 2023 Summer;59(2):68-79. PMID: 37468326
The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Braun F, Gangfuß A, Stöbe P, Haack TB, Schweiger B, Roos A, Schara U
Mol Genet Genomic Med 2021 Dec;9(12):e1767. Epub 2021 Jul 20 doi: 10.1002/mgg3.1767. PMID: 34288564Free PMC Article
Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form.
Paterson CR, Burns J, McAllion SJ
Am J Med Genet 1993 Jan 15;45(2):187-92. doi: 10.1002/ajmg.1320450208. PMID: 8456801
Non-Majewski short rib-polydactyly syndrome.
Sillence DO
Am J Med Genet 1980;7(2):223-9. doi: 10.1002/ajmg.1320070215. PMID: 7468650

Therapy

Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid.
Kwan KYH, Cheung JPY, Yiu KKL, Cheung KMC
Eur Spine J 2018 Jul;27(Suppl 3):287-291. Epub 2017 Jun 12 doi: 10.1007/s00586-017-5164-x. PMID: 28608177
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.
Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A
J Hum Genet 2015 Dec;60(12):743-7. Epub 2015 Oct 15 doi: 10.1038/jhg.2015.116. PMID: 26467725
Minimally invasive pectus excavatum repair: migration of bar and ossification.
Giacomo TD, Diso D, Francioni F, Anile M, Venuta F
Asian Cardiovasc Thorac Ann 2013 Feb;21(1):88-9. doi: 10.1177/0218492312449751. PMID: 23430431
Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.
Arundel P, Offiah A, Bishop NJ
J Bone Miner Res 2011 Apr;26(4):894-8. doi: 10.1002/jbmr.258. PMID: 20872883
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias.
Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS
Pediatr Radiol 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. PMID: 11200997

Prognosis

The Tessier number 14 facial cleft: a 20 years follow-up.
Nam SM, Kim YB
J Craniomaxillofac Surg 2014 Oct;42(7):1397-401. Epub 2014 Apr 13 doi: 10.1016/j.jcms.2014.03.032. PMID: 24837484
Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.
Lingaraju N, Nagarathna PJ, Vijayalakshmi R, Sheshadri P
J Contemp Dent Pract 2013 Jan 1;14(1):140-2. doi: 10.5005/jp-journals-10024-1288. PMID: 23579912
Menin is required in cranial neural crest for palatogenesis and perinatal viability.
Engleka KA, Wu M, Zhang M, Antonucci NB, Epstein JA
Dev Biol 2007 Nov 15;311(2):524-37. Epub 2007 Sep 7 doi: 10.1016/j.ydbio.2007.08.057. PMID: 17927973
Lateral thoracic expansion for Jeune syndrome: evidence of rib healing and new bone formation.
Davis JT, Long FR, Adler BH, Castile RG, Weinstein S
Ann Thorac Surg 2004 Feb;77(2):445-8. doi: 10.1016/S0003-4975(03)01340-7. PMID: 14759413
The spine in osteogenesis imperfecta.
Benson DR, Donaldson DH, Millar EA
J Bone Joint Surg Am 1978 Oct;60(7):925-9. PMID: 701340

Clinical prediction guides

"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias.
Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS
Pediatr Radiol 2001 Jan;31(1):38-42. doi: 10.1007/s002470000354. PMID: 11200997
Ischiospinal dysostosis with rib gaps and nephroblastomatosis.
Spranger J, Self S, Clarkson KB, Pai GS
Clin Dysmorphol 2001 Jan;10(1):19-23. doi: 10.1097/00019605-200101000-00004. PMID: 11152142
Skeletal abnormalities in the Apert syndrome.
Cohen MM Jr, Kreiborg S
Am J Med Genet 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. PMID: 8266987
Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen.
Shapiro JR, Burn VE, Chipman SD, Jacobs JB, Schloo B, Reid L, Larsen N, Louis F
Bone 1989;10(3):165-71. doi: 10.1016/8756-3282(89)90049-5. PMID: 2803853
The spine in osteogenesis imperfecta.
Benson DR, Donaldson DH, Millar EA
J Bone Joint Surg Am 1978 Oct;60(7):925-9. PMID: 701340

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