Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.
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.
Nadjari
M
M
Department of Obstetrics and Gynecology, Hadassah Ein-Kerem Medical Center, The Hebrew University Medical School, Jerusalem, Israel.
Fasouliotis
S J
SJ
Ariel
I
I
Raas-Rothschild
A
A
Bar-Ziv
J
J
Elchalal
U
U
D000015:Abnormalities, Multiple; D000028:Abortion, Induced; D000328:Adult; D004392:Dwarfism / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications; D005865:Gestational Age; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000000981:diagnostic imaging*; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal