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Clavicular pseudarthrosis

MedGen UID:
1814348
Concept ID:
C5676779
Pathologic Function
HPO: HP:0034187

Definition

A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). [from HPO]

Term Hierarchy

Conditions with this feature

Metatropic dysplasia
MedGen UID:
82699
Concept ID:
C0265281
Congenital Abnormality
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Intellectual disability, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Mental or Behavioral Dysfunction
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).

Professional guidelines

PubMed

Hübner EJ, Hausschild O, Südkamp NP, Strohm PC
Acta Chir Orthop Traumatol Cech 2011;78(4):288-96. PMID: 21888838
Brévaut-Malaty V, Guillaume JM
Pediatr Radiol 2009 Dec;39(12):1376. Epub 2009 Oct 22 doi: 10.1007/s00247-009-1424-1. PMID: 19847414
Rosen H
Clin Orthop Relat Res 1979 Jan-Feb;(138):154-66. PMID: 445896

Recent clinical studies

Diagnosis

Sankar WN, Weiss J, Skaggs DL
J Am Acad Orthop Surg 2009 Feb;17(2):112-22. doi: 10.5435/00124635-200902000-00007. PMID: 19202124
Freedman M, Gamble J, Lewis C
J Can Assoc Radiol 1982 Mar;33(1):37-8. PMID: 7076705

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