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Current status of the human malformation map.

Published in Birth defects original article series

The recent advances in recombinant DNA technology are now being applied to map and clone the genes for dysmorphic syndromes. The genes for almost 40% of the malformation and dysplasia syndromes listed in Smith's Recognizable Patterns of Human Malformation [Jones, 1988] have now been mapped and/or identified. This strategy has dramatically changed t...

Pentalogy of Cantrell: detection through fetal board registry and fetal pathology.

Published in Birth defects original article series

Malformation syndromes with kidney dysplasia.

Published in Birth defects original article series

Severe hemifacial microsomia and absent right pharyngeal arch artery derivatives in a 19-week-old fetus.

Published in Birth defects original article series

Two cases of neonatal muscular atrophy: nosological problems.

Published in Birth defects original article series

Familial holoprosencephaly: further example of autosomal recessive inheritance.

Published in Birth defects original article series

Cytogenetic and morphologic findings in chorionic villi from spontaneous abortions.

Published in Birth defects original article series

Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome.

Published in Birth defects original article series

A case of short-rib syndrome without polydactyly in a stillborn: a new type?

Published in Birth defects original article series

Atypical presentation of Denys-Drash syndrome in a female with a novel Wt1 gene mutation.

Published in Birth defects original article series