Facial abnormalities

Rozman M, Camos M, Colomer D, Villamor N, Esteve J, Costa D, Carrio A, Aymerich M, Aguilar JL, Domingo A, Sole F, Gomis F, Florensa L, Montserrat E, Campo E (2004) Type I MOZICBP (MYST31CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8 16)(pll pl3) translocation. Genes Chromosomes. Cancer 40 140-145 Rubinstein JH, Taybi H (1963) Broad thumbs and toes and facial abnormalities. Am J Dis Child 105 588-608... 

Rubinstein, J.H. and Taybi, H. (1963) Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. American Journal of Diseases of Children, 105, 588-608. 

Exposure to isotretoin during the first few weeks of exposure results in a characteristic group of birth defects. These include facial abnormalities such as missing ears or ears developing below the chin as well as cardiac and brain malformations. A... 

Fetal alcohol syndrome Ethanol use in pregnancy is associated with teratogenic effects that include mental retardation (most common), growth deficiencies, microcephaly, and a characteristic underdevelopment of the mid face region. Facial abnormalities are particularly associated with heavy consumption of alcohol in the first trimester of pregnancy. 

Differential diagnoses include diabetes mellitus and metabolic syndrome because patients with these conditions share several similar characteristics with Cushing s syndrome patients (e.g., obesity, hypertension, hyperlipidemia, hyperglycemia, and insulin resistance). In women, the presentations of hirsutism, menstrual abnormalities, and insulin resistance are similar to those of polycystic ovary syndrome. Cushing s syndrome can be differentiated from these conditions by identifying the classic signs and symptoms of truncal obesity, "moon faces" with facial plethora, a "buffalo hump" and supraclavicular fat pads, red-purple skin striae, and proximal muscle weakness. 

In severe cases, children may develop facial bone development abnormalities and dental malocclusion. 

Multiple sulfatase deficiency (MSD). The clinical presentation of MSD includes features of MLD and the MPS, with the features that resemble MLD, such as gait disturbances, psychomotor retardation and polyneuropathy predominating. MPS-like features, such as facial coarsening, hepatosplenomegaly and joint stiffness, are present to a milder and variable extent. A reduction in the activity of all sulfatases is the key diagnostic abnormality. Von Figura and associates have demonstrated that catalytic activity of all sulfatases requires a post-translational modification in which a cysteine residue (cysteine 69 in arylsulfatase A) is oxidized to an aldehyde. It is this modification that is defective in MSD [5]. 

A score of 3 is assigned when the nasal prominence is small, or in cases when there are small or misshapen optic or otic placodes (Fig. 14c, arrows). A score of 3 is also assigned when the mesencephalic flexure is irregularly shaped or it is small/narrow. Frequently, facial hypoplasia (reduced expansion/distance between the optic and otic placodes) accompanies this finding as the flexure abnormalities can indicate alterations in craniofacial mesenchyme populations. 

Other brain regions are undoubtedly involved in affi-liative behaviors. For example, the ventral temporal area of the cortex appears to be involved in facial discrimination in humans, and abnormalities in the activation of this area during facial discrimination tasks are present in individuals with autism (Schultz et ah, 2000). In rats and other mammals, the olfactory bulb and entorhinal cortex also appear to be involved in affiliative behaviors, including maternal behaviors (Numan, 1994). 

Prenatal exposure to ethanol results in a spectrum of abnormalities including, at one extreme, fetal alcohol syndrome, which includes growth retardation, facial anomalies, mental retardation, and microencephaly. Children with less severe prenatal exposures often lack the characteristic facial features of fetal alcohol syndrome, but suffer from a similar pattern of cognitive deficits (Berman and Hannigan, 2000). Mild exposures are associated with variable deficits in motor development and functional delays (Levitt, 1998). 

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