Facial anomalies

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). 

The observed growth deficiencies are associated with an inability of the baby to catch up due to a slower than normal rate of development. Other infrequent outcomes include skeletal malformations such as deformed ribs and sternum, scoliosis, malformed digits, and microcephaly. Distinctive facial anomalies have been associated with a diagnosis of fetal alcohol syndrome small eye openings, epicanthal folds, failure of eyes to move in the same direction, short upturned nose, flat or absent groove between nose and upper lip, and thin upper lip. Visceral deformities may also be present heart defects, genital malformations, kidney, and urinary defects. 

Detterman That could be the case. I know that at the lower end, for instance, a number of facial anomalies are correlated with mental retardation. 

The most common disorder of cholesterol biosynthesis, with an estimated incidence of 1 in 40,000 births, is Smith-Lemli-Opitz (RSH) syndrome [18, 19]. This autosomal recessive disorder is characterized clinically by distinctive facial anomalies, limb and genital malformations, and mental retarda-... 

Appearance. Eye contact and clothing are important to observe. Physical anomalies, dysmorphic facial features, or suggestions of a genetic or neurodevelopmental condition are also important to identify. 

Mitochondrial disorders are not commonly regarded as causes of malformations. Facial features included round face, high forehead, small nose, and long flat philtrum, reminiscent of the fetal alcohol syndrome. Limb and trunk involvements included short hands, brachydactyly, hypoplasia of the distal and middle phalanges, hypoplastic nails, and the VACTERL [vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal (kidney) and/or radial anomalies, and preaxial limb anomalies (in front of or above the central axis of the limb)] association [50]. 

Adverse effects in patients include nausea, vomiting, blood anomalies, alopecia, facial flushing and facial paresthesias, hepatotoxicity, and azotemia.2 It is carcinogenic in animals. Reasonably anticipated to be a human carcinogen.3... 

An infant exposed to cocaine in utero had a combination of facial, ear, eye, and vertebral anomalies, accompanied by cardiac, central nervous system, and other malformations (261). 

Reported congenital abnormalities are many and include facial and palate defects, skin and skeletal anomalies, and visceral malformations. Based on one case and a review of six previous reports of malformations after in utero exposure to cyclophosphamide in the first trimester, a distinct embryopathy due to cyclophosphamide has been suggested (68). The proposed phenotype included growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects chromosomes were normal. 

Although the term anencephalic suggests a lack of all but the bones of the face, in fact, all of the bones of the skull are present (Figure 6). The anomalies of the facial bones and those of the remainder of the skull are the consequence of early disruption of the notochord, the mesoderm, and the neuroepithelium. Early deficiency in neural tube closure exposes the developing brain (neuroepithelium) to mechanical abrasion from the fourth week of gestation until birth. The hindbrain (often enclosed and therefore protected by the rudimentary neurocranium) can remain intact - containing those structures responsible for control of respiration. Thus, the newborn... 

As with valproic acid, a 2- to 3-fold increase in the frequency of congenital malformations has been attributed to the use of carbamazepine. A 10-fold increase in the risk of spina bifida compared with the general population or an absolute risk of 1% has been described. Other birth defects reported from either monotherapy or combination therapy with other agents include facial roundness, nasal bridge defects, nail defects, and other head anomalies. Developmental... 

Anomalies in the amygdala also have been found. fMRI reveals involvement of these regions in autism. Some with Asperger syndrome, a variant of autism, have abnormal interconnections between limbic and paralimbic regions, the cerebellum, and the visual cortices, revealed when they are asked to identify emotions by facial expressions. 

Orthodontics is concerned with facial growth, the development of occlusion and the prevention and correction of occlusal anomalies. There are currently two main theories for the application of force for effective orthodontic tooth movement (1) light intermittent forces to enable the tooth to move followed by a period of tissue remodelling and recovery and (2) light continuous forces to enable the tooth to move continuously without recovery. 

A 2-month-old boy bom to a mother taking valproate had typical dysmorphic features characteristic of fetal valproate syndrome [342 ]. He had a distinctive facial appearance, a cluster of minor and major anomalies, central nervous system dysfunction, a persistent left superior vena cava draining into a dilated coronary sinus, and mild pulmonary hypertension. 

A 13-year-old boy with Costello syndrome (neonatal macrosomia with subsequent slow growth, developmental delay, coarse facial dysmorphisms, gingival hyperplasia, skeletal anomalies, and hypertrophic cardiomyopathy) and chronic constipation developed signs and symptoms of acute renal insufficiency, after having received four phosphate-containing enemas (125 ml containing sodium... 

Teratogenicity A case of bilateral oblique facial clefts and extremity anomaly has been reported following in utero exposure to EFV. Its teratogenic risk has also been reviewed [225 ]. 

Shanske AL. Bilateral obEque facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk. AIDS 2012 26(14) 1775-9. 

Craniofacial malformation are common features of FAS, which impairs the normal development of the skull, jaws, teeth, nose, eyes, and facial skin. Sometimes variable anomalies of limbs and joints are present, including congenital hip dislocations, abnormalities of the toes, and inability to extend completely the elbows or metacarpal phalangeal joints. Cardiac malformations syndrome encompasses an atrial septal defect, a patent ductus arteriosis, and cardiac murmurs representing ventricular septal defects. Anomalies of external genitalia have also been noted. 

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