Arhinencephaly

Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly… Expand

BACKGROUND The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal… Expand

Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and… Expand

We report the descriptive epidemiology of holoprosencephaly and arhinencephaly using data from the Metropolitan Atlanta… Expand

Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance… Expand

Two males, 9-11 and 29-31 years of age, with severe hypoplasia of the nose, hypoplasia of the eyes, sensory abnormalities of… Expand

Unusual and virtually identical hypothalamic tumors were recently studied in three unrelated neonates with a similar complex… Expand

Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the… Expand

An infant with extensive CNS malformations and aplasia of the optic system in association with grossly normal-appearing eyes was… Expand