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.

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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