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Aplasia/Hypoplasia involving the skeletal musculature

MedGen UID:: 871285
•Concept ID:: C4025773
•: Finding

Synonyms:	Absent/small skeletal muscles; Absent/underdeveloped skeletal muscles

HPO:	HP:0001460

Definition

Absence or underdevelopment of the musculature. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia involving the skeletal musculature

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormality of muscle size
        Aplasia/Hypoplasia involving the skeletal musculature
        Aplasia of the musculature
        Amyoplasia
        Aplasia of the pectoralis major muscle
        Biceps aplasia
        Quadriceps aplasia
        Triceps aplasia
        Hypoplasia of the musculature
        Calf muscle hypoplasia
        Pectoralis hypoplasia
        Shoulder muscle hypoplasia
        Hypoplasia of deltoid muscle
        Upper limb muscle hypoplasia
        Hypoplasia of the upper arm musculature

Recent clinical studies

Diagnosis

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).

Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314

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