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Distal clavicular thinning

MedGen UID:
1814195
Concept ID:
C5676617
Finding
HPO: HP:0025681

Definition

Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal clavicular thinning

Conditions with this feature

Chondrodysplasia-pseudohermaphroditism syndrome
MedGen UID:
333149
Concept ID:
C1838654
Disease or Syndrome
Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019).

Recent clinical studies

Etiology

Yu YS, Dardani M, Fischer RA
J Comput Assist Tomogr 2000 Jan-Feb;24(1):159-64. doi: 10.1097/00004728-200001000-00028. PMID: 10667676
Patten RM
J Comput Assist Tomogr 1995 Jan-Feb;19(1):92-5. doi: 10.1097/00004728-199501000-00018. PMID: 7822557

Diagnosis

Yu YS, Dardani M, Fischer RA
J Comput Assist Tomogr 2000 Jan-Feb;24(1):159-64. doi: 10.1097/00004728-200001000-00028. PMID: 10667676
Patten RM
J Comput Assist Tomogr 1995 Jan-Feb;19(1):92-5. doi: 10.1097/00004728-199501000-00018. PMID: 7822557

Prognosis

Patten RM
J Comput Assist Tomogr 1995 Jan-Feb;19(1):92-5. doi: 10.1097/00004728-199501000-00018. PMID: 7822557

Clinical prediction guides

Yu YS, Dardani M, Fischer RA
J Comput Assist Tomogr 2000 Jan-Feb;24(1):159-64. doi: 10.1097/00004728-200001000-00028. PMID: 10667676

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