Tags

Type your tag names separated by a space and hit enter

Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.
Prenat Diagn. 2000 Aug; 20(8):666-9.PD

Abstract

Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.

Links

Publisher Full Text

Authors+Show Affiliations

Nadjari M
Department of Obstetrics and Gynecology, Hadassah Ein-Kerem Medical Center, The Hebrew University Medical School, Jerusalem, Israel.
Fasouliotis SJ
No affiliation info available
Ariel I
No affiliation info available
Raas-Rothschild A
No affiliation info available
Bar-Ziv J
No affiliation info available
Elchalal U
No affiliation info available

MeSH

Abnormalities, MultipleAbortion, InducedAdultDwarfismFemaleFetal Growth RetardationGestational AgeHumansMaleMicrocephalyOsteochondrodysplasiasPregnancyUltrasonography, Prenatal

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10951479

Citation

Nadjari, M, et al. "Ultrasonographic Prenatal Diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Types I/III." Prenatal Diagnosis, vol. 20, no. 8, 2000, pp. 666-9.
Nadjari M, Fasouliotis SJ, Ariel I, et al. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. Prenat Diagn. 2000;20(8):666-9.
Nadjari, M., Fasouliotis, S. J., Ariel, I., Raas-Rothschild, A., Bar-Ziv, J., & Elchalal, U. (2000). Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. Prenatal Diagnosis, 20(8), 666-9.
Nadjari M, et al. Ultrasonographic Prenatal Diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Types I/III. Prenat Diagn. 2000;20(8):666-9. PubMed PMID: 10951479.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III. AU - Nadjari,M, AU - Fasouliotis,S J, AU - Ariel,I, AU - Raas-Rothschild,A, AU - Bar-Ziv,J, AU - Elchalal,U, PY - 2000/8/22/pubmed PY - 2000/9/9/medline PY - 2000/8/22/entrez SP - 666 EP - 9 JF - Prenatal diagnosis JO - Prenat Diagn VL - 20 IS - 8 N2 - Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/10951479/Ultrasonographic_prenatal_diagnosis_of_microcephalic_osteodysplastic_primordial_dwarfism_types_I/III_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=2000&volume=20&issue=8&spage=666 DB - PRIME DP - Unbound Medicine ER -