Congenital anomaly of face

Known as: Facial Dysmorphism, facial malformations, Craniofacial dysmorphism 
 
National Institutes of Health

Related topics

Related topics

14 relations
Abnormality of the faceBonneau SyndromeCongenital Cataracts, Facial Dysmorphism, And NeuropathyCongenital anomaly of skull
(More)

Narrower (2)

Cleft PalateCongenital anomaly of jaw

Broader (2)

Congenital musculoskeletal anomaliesCraniofacial Abnormalities

Papers overview

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2008
2008
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.
BACKGROUND In humans, fetal ethanol exposure can cause holoprosencephaly (HPE), one of the most common birth defects that is… (More)
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Highly Cited
2007
Highly Cited
2007
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
Studies of human chromosomal aberrations and knockout (KO) mice have suggested SATB2 as a candidate gene for a human malformation… (More)
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Highly Cited
2002
Highly Cited
2002
Characterization of lpa(2) (Edg4) and lpa(1)/lpa(2) (Edg2/Edg4) lysophosphatidic acid receptor knockout mice: signaling deficits without obvious phenotypic abnormality attributable to lpa(2).
Lysophosphatidic acid (LPA), a bioactive lipid produced by several cell types including postmitotic neurons and activated… (More)
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Highly Cited
1999
Highly Cited
1999
MT1-MMP-Deficient Mice Develop Dwarfism, Osteopenia, Arthritis, and Connective Tissue Disease due to Inadequate Collagen Turnover
MT1-MMP is a membrane-bound matrix metalloproteinase (MT-MMP) capable of mediating pericellular proteolysis of extracellular… (More)
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Highly Cited
1998
Highly Cited
1998
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
Rieger syndrome is an autosomal-dominant developmental disorder that includes glaucoma and mild craniofacial dysmorphism in… (More)
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Highly Cited
1996
Highly Cited
1996
Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder… (More)
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1995
1995
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.
The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and… (More)
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1994
1994
A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1
Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two… (More)
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1992
1992
Experimental fetal alcohol syndrome: proposed pathogenic basis for a variety of associated facial and brain anomalies.
Acute teratogenic exposure of C57Bl/6J mouse embryos to ethanol in vivo results, within 12 hours of initial insult, in excessive… (More)
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Review
1987
Review
1987
Teratogen update: valproic acid.
Valproic acid use during pregnancy results in an absolute risk for spina bifida of 1-2%. This increased risk is comparable to the… (More)
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