Disease relevance of Craniofacial Abnormalities

• Unlike other null mutants with cleft palate, TGF-beta 3-/- mice lack other concomitant craniofacial abnormalities [1].
• Obesity and craniofacial abnormalities, which have been reported in SMS mouse models containing a heterozygous deletion of the syntenic SMS critical region, were observed in Rai1(+/-) mice [2].
• Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and post-axial and pre-axial polydactyly as well as syndactyly of hands and feet [3].
• Therefore, craniofacial abnormalities characteristic of the RA embryopathy are mediated through ectopic activation of RARbeta/RXR heterodimers, in which the ligand-dependent activity of RXR is subordinated to that of RARbeta [4].
• Nebulette was shown to be deleted in DiGeorge Syndrome 2 patients with the proximal deletion of human 10p13-p14 that is associated with cardiac and craniofacial abnormalities [5].

Psychiatry related information on Craniofacial Abnormalities

• In addition to the well-known features (e.g., intrauterine growth retardation, microcephaly, mental retardation and typical craniofacial abnormalities), 29% of the cases had heart defects, 10% had G.U. tract malformations, and 1.8% had spina bifida [6].

High impact information on Craniofacial Abnormalities

• Apaf1-deficient mice exhibited reduced apoptosis in the brain and striking craniofacial abnormalities with hyperproliferation of neuronal cells [7].
• To determine whether ESCO2 mutations are also responsible for SC, we studied three families with SC and two families in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound, led to pregnancy terminations [8].
• A similar autosomal recessive defect may also occur in man, where polysyndactyly, in combination with craniofacial abnormalities, is also part of a common genetic syndrome [9].
• This genetic disorder is characterized by eyelid and craniofacial abnormalities associated or not with premature ovarian failure [10].
• We have used Msx1-deficient mice as a model system that exhibits severe craniofacial abnormalities, including cleft secondary palate and lack of teeth, to study the genetic regulation of mammalian palatogenesis [11].

Chemical compound and disease context of Craniofacial Abnormalities

• Retinoic acid causes a range of embryonic defects, including craniofacial abnormalities, in both birds and mammals and is believed to have a number of roles in normal development [12].
• Ethanol exposure during fetal development can result in behavioral and neurological deficits, including reduced cognitive functions, retarded growth, and craniofacial abnormalities [13].
• Pregnant rats treated with inhibitors of DHCR7 yield pups that have abnormal sterol profiles and craniofacial abnormalities characteristic of severe SLOS [14].
• PEA, 2-OH PAA, PPA, PAA, and PLA also produced craniofacial abnormalities, i.e., incomplete expansion of the forebrain, collapse of the optic vesicle, and hypoplasia of the mandible and/or the maxilla.(ABSTRACT TRUNCATED AT 250 WORDS)[15]
• In 1968 Meadow reported certain malformations that suggest a congenital syndrome involving craniofacial abnormalities and that add to the high level of suspicion pointing to phenytoin [16].

Biological context of Craniofacial Abnormalities

• Neonatal rats exposed prenatally to phenytoin (PHT) have been reported to have craniofacial abnormalities and growth retardation [Lorente et al.: Teratology 24:169-180, 1981] [17].

Anatomical context of Craniofacial Abnormalities

• Mice homozygous for the querkopf mutation have craniofacial abnormalities, fail to thrive in the postnatal period and have defects in central nervous system development [18].
• Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice [19].
• Ltbp-3-/- animals developed craniofacial abnormalities due to early ossification of the skull base synchondroses and displayed reduced body size [20].
• Hemifacial microsomia (HFM), a developmental abnormality involving the first and second branchial arches, is one of the most common craniofacial abnormalities [21].

Gene context of Craniofacial Abnormalities

• Compound mutants of Alx3 and Alx4, however, show severe craniofacial abnormalities that are absent in Alx4 single mutants [22].
• Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene [23].
• This study demonstrates that FGFR2 mutations can result in a spectrum of craniofacial abnormalities even within one family [24].
• MSX2 is expressed in key craniofacial structures during development and mutations in the human gene give rise to various craniofacial abnormalities [25].
• Overexpression of wild-type TH resulted in increased proliferation of neural plate cells, causing expansion of the neural field followed by neural tube and craniofacial abnormalities [26].

References