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Arhinencephaly

Known as: Arhinencephalies, Arrhinencephaly 
National Institutes of Health

Related topics

Related topics

10 relations
Alobar HoloprosencephalyCerebrumCongenital absenceFryns syndrome

Broader (1)

Congenital Disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2007
Review
2007
CHARGE syndrome: an update
CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene… 
Review
2006
Review
2006
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
  • M. Cohen
  • Birth defects research. Part A, Clinical and…
  • 2006
  • Corpus ID: 23232786
Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly… 
Review
1995
Review
1995
Apoptosis in the developing CNS
Highly Cited
1994
Highly Cited
1994
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance… 
Highly Cited
1981
Highly Cited
1981
Incomplete trisomy 22
SummaryTwo brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother… 
Highly Cited
1980
Highly Cited
1980
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations.
Unusual and virtually identical hypothalamic tumors were recently studied in three unrelated neonates with a similar complex… 
Highly Cited
1979
Highly Cited
1979
The spectrum of the DiGeorge syndrome.
Highly Cited
1979
Highly Cited
1979
Alcohol embryo- and fetopathy Neuropathology of 3 children and 3 fetuses
Highly Cited
1964
Highly Cited
1964
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).
Two patients with orbital hypotelorism, flat nose, and bilateral lateral cleft of lip and palate with a hypoplastic… 
Review
1960
Review
1960
Orbital hypotelorism, arhinencephaly, and trigonocephaly.
Roentgenographic examination of the skull in frontal projection provides, among other information, an opportunity to evaluate the… 
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