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Enlarged thorax

MedGen UID:
866616
Concept ID:
C4020962
Finding
Synonyms: Wide rib cage; Wide thorax
 
HPO: HP:0100625

Conditions with this feature

Osteogenesis imperfecta type 13
MedGen UID:
766801
Concept ID:
C3553887
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.
Noonan syndrome 13
MedGen UID:
1761918
Concept ID:
C5436773
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.

Professional guidelines

PubMed

Liao HB, Hwand RC, Chang MJ, Chu ML, Chou TY, Hsien FJ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989 Jul-Aug;30(4):266-71. PMID: 2700280

Recent clinical studies

Etiology

Andreescu N, Sharma A, Mihailescu A, Zimbru CG, David VL, Horhat R, Kundnani NR, Puiu M, Farcas S
Eur Rev Med Pharmacol Sci 2022 Jul;26(14):5107-5114. doi: 10.26355/eurrev_202207_29298. PMID: 35916808
Liao HB, Hwand RC, Chang MJ, Chu ML, Chou TY, Hsien FJ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989 Jul-Aug;30(4):266-71. PMID: 2700280

Diagnosis

Andreescu N, Sharma A, Mihailescu A, Zimbru CG, David VL, Horhat R, Kundnani NR, Puiu M, Farcas S
Eur Rev Med Pharmacol Sci 2022 Jul;26(14):5107-5114. doi: 10.26355/eurrev_202207_29298. PMID: 35916808
Rodríguez-González F
Rom J Ophthalmol 2021 Jul-Sep;65(3):263-266. doi: 10.22336/rjo.2021.52. PMID: 35036648Free PMC Article
Walid MS, Troup EC, Robinson JS Jr
South Med J 2008 Jul;101(7):764-6. doi: 10.1097/SMJ.0b013e31817a8bb7. PMID: 18580715
Liao HB, Hwand RC, Chang MJ, Chu ML, Chou TY, Hsien FJ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989 Jul-Aug;30(4):266-71. PMID: 2700280

Clinical prediction guides

Liao HB, Hwand RC, Chang MJ, Chu ML, Chou TY, Hsien FJ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989 Jul-Aug;30(4):266-71. PMID: 2700280

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