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Dumbbell-shaped long bone

MedGen UID:
412739
Concept ID:
C2749582
Finding
Synonym: Dumbbell-shaped long bones
 
HPO: HP:0000947

Definition

An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. [from HPO]

Term Hierarchy

Conditions with this feature

Kniest dysplasia
MedGen UID:
75559
Concept ID:
C0265279
Disease or Syndrome
Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999).
Schneckenbecken dysplasia
MedGen UID:
98475
Concept ID:
C0432194
Disease or Syndrome
Schneckenbecken dysplasia (SHNKND) is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007).
Platyspondylic dysplasia, Torrance type
MedGen UID:
331974
Concept ID:
C1835437
Disease or Syndrome
The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005).
Fibrochondrogenesis 1
MedGen UID:
479768
Concept ID:
C3278138
Disease or Syndrome
Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.

Professional guidelines

PubMed

Akwari OE, Payne WS, Onofrio BM, Dines DE, Muhm JR
Mayo Clin Proc 1978 Jun;53(6):353-8. PMID: 651379

Recent clinical studies

Etiology

Ye K, Broertjes K, Qin H, Zhan Y, An Z
Arch Orthop Trauma Surg 2023 Feb;143(2):909-917. Epub 2022 Feb 18 doi: 10.1007/s00402-022-04381-w. PMID: 35179636
Kim YG, Park CK, Jung NY, Jung HH, Chang JH, Chang JW, Chang WS
Radiat Oncol 2022 May 7;17(1):89. doi: 10.1186/s13014-022-02057-8. PMID: 35525985Free PMC Article
Yi X, Xiao D, He Y, Yin H, Gong G, Long X, Liao W, Li X, Sun L, Zhang Y, Zhang B
World Neurosurg 2017 Aug;104:318-329. Epub 2017 May 13 doi: 10.1016/j.wneu.2017.05.016. PMID: 28512044
Yang J, Yang X, Miao W, Jia Q, Wan W, Meng T, Wu Z, Cai X, Song D, Xiao J
World J Surg Oncol 2016 Aug 4;14(1):206. doi: 10.1186/s12957-016-0951-0. PMID: 27491867Free PMC Article
Chou CW, Hsu SP, Lin SC, Chen MH, Shih YH, Lee LS, Lin CF
J Chin Med Assoc 2009 Oct;72(10):536-41. doi: 10.1016/S1726-4901(09)70424-1. PMID: 19837649

Diagnosis

N'da H, Dauleac C, Toquart A, Afathi M, Meyronet D, Barrey C
Neurochirurgie 2018 Jun;64(3):206-210. Epub 2018 May 3 doi: 10.1016/j.neuchi.2018.03.001. PMID: 29730052
Yi X, Xiao D, He Y, Yin H, Gong G, Long X, Liao W, Li X, Sun L, Zhang Y, Zhang B
World Neurosurg 2017 Aug;104:318-329. Epub 2017 May 13 doi: 10.1016/j.wneu.2017.05.016. PMID: 28512044
Yang J, Yang X, Miao W, Jia Q, Wan W, Meng T, Wu Z, Cai X, Song D, Xiao J
World J Surg Oncol 2016 Aug 4;14(1):206. doi: 10.1186/s12957-016-0951-0. PMID: 27491867Free PMC Article
Woitzik J, Sommer C, Krauss JK
Clin Neurol Neurosurg 2003 Jul;105(3):159-66. doi: 10.1016/s0303-8467(02)00140-3. PMID: 12860507
Akwari OE, Payne WS, Onofrio BM, Dines DE, Muhm JR
Mayo Clin Proc 1978 Jun;53(6):353-8. PMID: 651379

Therapy

Kim YG, Park CK, Jung NY, Jung HH, Chang JH, Chang JW, Chang WS
Radiat Oncol 2022 May 7;17(1):89. doi: 10.1186/s13014-022-02057-8. PMID: 35525985Free PMC Article
Yang J, Yang X, Miao W, Jia Q, Wan W, Meng T, Wu Z, Cai X, Song D, Xiao J
World J Surg Oncol 2016 Aug 4;14(1):206. doi: 10.1186/s12957-016-0951-0. PMID: 27491867Free PMC Article

Prognosis

Kim YG, Park CK, Jung NY, Jung HH, Chang JH, Chang JW, Chang WS
Radiat Oncol 2022 May 7;17(1):89. doi: 10.1186/s13014-022-02057-8. PMID: 35525985Free PMC Article
Yang J, Yang X, Miao W, Jia Q, Wan W, Meng T, Wu Z, Cai X, Song D, Xiao J
World J Surg Oncol 2016 Aug 4;14(1):206. doi: 10.1186/s12957-016-0951-0. PMID: 27491867Free PMC Article
Starks A, Guo L, Abraham JA
Orthopedics 2013 Sep;36(9):e1220-4. doi: 10.3928/01477447-20130821-29. PMID: 24025018
Akwari OE, Payne WS, Onofrio BM, Dines DE, Muhm JR
Mayo Clin Proc 1978 Jun;53(6):353-8. PMID: 651379

Clinical prediction guides

Kim YG, Park CK, Jung NY, Jung HH, Chang JH, Chang JW, Chang WS
Radiat Oncol 2022 May 7;17(1):89. doi: 10.1186/s13014-022-02057-8. PMID: 35525985Free PMC Article
Yi X, Xiao D, He Y, Yin H, Gong G, Long X, Liao W, Li X, Sun L, Zhang Y, Zhang B
World Neurosurg 2017 Aug;104:318-329. Epub 2017 May 13 doi: 10.1016/j.wneu.2017.05.016. PMID: 28512044
Starks A, Guo L, Abraham JA
Orthopedics 2013 Sep;36(9):e1220-4. doi: 10.3928/01477447-20130821-29. PMID: 24025018

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