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Blomstrand dysplasia

MedGen UID:
721999
•Concept ID:
C1300206
•
Disease or Syndrome
SNOMED CT: Blomstrand dysplasia (389237009)

Professional guidelines

PubMed

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914

Recent clinical studies

Etiology

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
Turan S
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):58-68. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S006. PMID: 29280743Free PMC Article

Diagnosis

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Sarac Sivrikoz T, Kalayci T, Senturk L, Karaman V, Kalelioglu IH, Has R, Kayserili H, Uyguner ZO, Nishimura G, Altunoglu U
Prenat Diagn 2022 Nov;42(12):1503-1510. Epub 2022 Jul 20 doi: 10.1002/pd.6208. PMID: 35808914
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.
Beena S, Murlidhar L, Seshadri S, Jagadeesh S, Suresh I
J Matern Fetal Neonatal Med 2017 May;30(9):1041-1044. Epub 2016 Aug 10 doi: 10.1080/14767058.2016.1199675. PMID: 27353973
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias.
Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC
Am J Med Genet 1998 May 1;77(2):116-34. PMID: 9605285
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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