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Thoracopelvic dysostosis

MedGen UID:
396079
Concept ID:
C1861196
Disease or Syndrome
Synonym: Thoracopelvic Dysostosis
 
OMIM®: 187770

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.

Recent clinical studies

Diagnosis

Nakamura Y, Iwazaki M, Masuda R, Nakano M, Sato T, Shimada A
Tokai J Exp Clin Med 2013 Dec 20;38(4):142-5. PMID: 24318286

Therapy

Nakamura Y, Iwazaki M, Masuda R, Nakano M, Sato T, Shimada A
Tokai J Exp Clin Med 2013 Dec 20;38(4):142-5. PMID: 24318286

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