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Rib gap

MedGen UID:
605200
Concept ID:
C0426827
Finding
Synonyms: Gap in ribs; Space in rib
SNOMED CT: Gap in ribs (249705009); Space in rib (249705009)
 
HPO: HP:0030280

Definition

Radiolucent focal defect of a rib shaft. [from HPO]

Conditions with this feature

Cerebro-costo-mandibular syndrome
MedGen UID:
120537
Concept ID:
C0265342
Disease or Syndrome
Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant disorder characterized by branchial arch-derivative and thoracic malformations. A key craniofacial characteristic is micrognathia, often associated with cleft palate and feeding and airway difficulties. Patients with CCMS have a narrow chest and striking posterior rib gaps which distinguish this condition (summary by Tooley et al., 2016). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.

Professional guidelines

PubMed

Hernlund E, Svedbom A, Ivergård M, Compston J, Cooper C, Stenmark J, McCloskey EV, Jönsson B, Kanis JA
Arch Osteoporos 2013;8(1):136. Epub 2013 Oct 11 doi: 10.1007/s11657-013-0136-1. PMID: 24113837Free PMC Article
Davis SR, Kirby C, Weekes A, Lanzafame A, Piterman L
Menopause 2011 Jan;18(1):53-9. doi: 10.1097/gme.0b013e3181e77468. PMID: 20711081
Brankin E, Mitchell C, Munro R; Lanarkshire Osteoporosis Service
Curr Med Res Opin 2005 Apr;21(4):475-82. doi: 10.1185/030079905X38150. PMID: 15899094

Recent clinical studies

Etiology

Chen R, Chen M, Xiong J, Yi F, Chi Z, Zhang B
Trials 2010 Dec 15;11:121. doi: 10.1186/1745-6215-11-121. PMID: 21156079Free PMC Article
Nagasawa H, Yamamoto Y, Kohno Y
Congenit Anom (Kyoto) 2010 Sep;50(3):171-4. Epub 2010 Apr 30 doi: 10.1111/j.1741-4520.2010.00281.x. PMID: 20507350
Williams HJ, Sane SM
AJR Am J Roentgenol 1976 Jun;126(6):1223-8. doi: 10.2214/ajr.126.6.1223. PMID: 179385

Diagnosis

Mirfazeli A, Shariatalavi R, Lashkarbolouk N, Lahoti D, Mazandarani M
Cleft Palate Craniofac J 2024 Aug;61(8):1404-1409. Epub 2023 Apr 24 doi: 10.1177/10556656231170994. PMID: 37093738
Matić A, Velisavljev-Filipović G, Lovrenski J, Gajdobranski D
Srp Arh Celok Lek 2016 Jul-Aug;144(7-8):431-5. doi: 10.2298/sarh1608431m. PMID: 29652453
Chen R, Chen M, Xiong J, Yi F, Chi Z, Zhang B
Trials 2010 Dec 15;11:121. doi: 10.1186/1745-6215-11-121. PMID: 21156079Free PMC Article
Nagasawa H, Yamamoto Y, Kohno Y
Congenit Anom (Kyoto) 2010 Sep;50(3):171-4. Epub 2010 Apr 30 doi: 10.1111/j.1741-4520.2010.00281.x. PMID: 20507350
Wilcox BK, Tatum SA
Am J Otolaryngol 2004 Jul-Aug;25(4):258-62. doi: 10.1016/j.amjoto.2003.10.005. PMID: 15239033

Therapy

Chen R, Chen M, Xiong J, Yi F, Chi Z, Zhang B
Trials 2010 Dec 15;11:121. doi: 10.1186/1745-6215-11-121. PMID: 21156079Free PMC Article

Prognosis

Matić A, Velisavljev-Filipović G, Lovrenski J, Gajdobranski D
Srp Arh Celok Lek 2016 Jul-Aug;144(7-8):431-5. doi: 10.2298/sarh1608431m. PMID: 29652453
Nagasawa H, Yamamoto Y, Kohno Y
Congenit Anom (Kyoto) 2010 Sep;50(3):171-4. Epub 2010 Apr 30 doi: 10.1111/j.1741-4520.2010.00281.x. PMID: 20507350
Williams HJ, Sane SM
AJR Am J Roentgenol 1976 Jun;126(6):1223-8. doi: 10.2214/ajr.126.6.1223. PMID: 179385

Clinical prediction guides

Duval A, Boute O, Devisme L, Valat AS, Manouvrier S
Am J Med Genet 1998 Dec 4;80(4):429-34. PMID: 9856577
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP
Am J Med Genet 1996 Mar 29;62(3):286-92. doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G. PMID: 8882789
Kozlowski K, Collis J, Suter M, Sillence D
Skeletal Radiol 1988;17(4):251-4. doi: 10.1007/BF00401806. PMID: 3212485

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