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Mesomelic and rhizo-mesomelic dysplasia

MedGen UID:
1843324
•Concept ID:
C5681611
•
Disease or Syndrome
Orphanet: ORPHA93438

Recent clinical studies

Etiology

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R
Am J Med Genet A 2018 Feb;176(2):450-454. Epub 2017 Dec 22 doi: 10.1002/ajmg.a.38570. PMID: 29271572

Diagnosis

First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
den Hollander NS, van der Harten HJ, Vermeij-Keers C, Niermeijer MF, Wladimiroff JW
Am J Med Genet 1997 Dec 19;73(3):345-50. PMID: 9415697

Clinical prediction guides

First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
den Hollander NS, van der Harten HJ, Vermeij-Keers C, Niermeijer MF, Wladimiroff JW
Am J Med Genet 1997 Dec 19;73(3):345-50. PMID: 9415697

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