Arhinencephaly

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

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

SummaryTwo brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother… 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

 

 

UNDER the term arhinencephuly, Kundratl in 1882 described a spectrum of teratisms characterized by median dysplasia of the face… Expand

IT is now recognized that specific clinical syndromes ■ may be associated with certain human chromosome defects. One such… Expand