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Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III
Author(s) -
Nadjari Michael,
Fasouliotis Sozos J.,
Ariel Ilana,
RaasRothschild Annick,
BarZiv Jacob,
Elchalal Uriel
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200008)20:8<666::aid-pd887>3.0.co;2-l
Subject(s) - dwarfism , microcephaly , prenatal diagnosis , medicine , congenital disease , pathology , pediatrics , pregnancy , biology , fetus , genetics , gene
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. Copyright © 2000 John Wiley & Sons, Ltd.