Fetal Alcohol Syndrome (FAS)
Incidence
Sporadic disorder related to maternal alcohol use during pregnancy. The overall incidence is now estimated at 0.97-1.9 cases per 1000 live births in the United States, reaching 43 per 1000 among \\\\\\\\\\\\\\\"heavy\\\\\\\\\\\\\\\" drinkers.
Clinical Characteristics
Clinical pattern including low birth weight, microcephaly, growth failure, small eyes, shallow philtrum, thin upper lip, anomalous ears, ocular, orthopedic, and cardiac problems. Fetal alcohol syndrome (FAS) denotes a pattern of physical and behavioral anomalies related to exposure to ethanol during pregnancy. Children with milder abnormalities from ethanol exposure, who lack the more severe and characteristic pattern of FAS, are described as having fetal alcohol effects (FAE).The diagnosis of FAS is based on subjective recognition of distinctive facial anomalies combined with a small head size and poor growth. Facial anomalies include small eyes, shallow nasal bridge, upturned nose, abnormal ears (posteriorly rotated or low-placed), thin upper lip, and absent philtrum (the crease between the nose and upper lip). Several studies have documented that less than one-half of children recognized by age 4 years were diagnosed during infancy. . Heavy drinking does cause IQ deficits in offspring regardless of morphologic findings. Children with FAS have a high frequency of neurologic problems and learning deficits with a mean IQ of 41-65. Older children often have attention deficits with hyperactive, distractible, and impulsive behavior. Children with fetal alcohol syndrome have different behaviors than controls with similar IQ and are at risk for mental illness. Behavior problems are particularly difficult in the adolescent and adult, including poor judgment, distractibility, and difficulty perceiving social clues.Neurosensory damage is also common, with abnormal brain stem evoked response or hearing loss in 79-90% of patients and diminished vision in 50%. The cognitive and neurosensory problems produce a high incidence of speech delay that needs attention. Other organs affected in FAS include the cardiac, immune, and skeletal systems. The DiGeorge anomaly with hypoparathyroidism and immune defects has been described, and the incidence of many types of infections, including otitis media, is increased. Cardiac anomalies are found in 40-50%, including atrial or ventricular septal defects, tetralogy of Fallot, peripheral pulmonary artery stenosis, and dextrocardia. Upper airway obstruction due to underdevelopment of the midface has produced cessation of breathing (apnea spells) or decreased blood oxygen (hypoxia) in some patients, placing them at risk to develop high blood pressure in their lungs (pulmonary hypertension). Subtle abnormalities of kidney function have been documented in FAS, and rare children have kidney malformations that can be identified by ultrasound. A variety of connective tissue defects occur, including the Klippel-Feil anomaly affecting the spine in the neck, fixation or dislocation of the joints, spinal curvature (scoliosis), or chest deformities. An elevated cancer rate has been suggested for FAS, with examples of neuroblastoma, hepatoblastoma, sacrococcygeal teratoma, medulloblastoma, adrenal carcinoma, and acute lymphocytic leukemia being published. It is known that chronic alcohol usage can produce cancers of the esophagus or liver in adults, and the tumors in children may relate to alcohol exposure or to increased medical scrutiny because of their problems.
Precipitants
There are no attacks or crisis. Just remember its cause is alcohol intake during pregnancy.
Provocation Tests
no
Diagnostic Procedures
It is a clinical diagnosis, basically low birth weight, microcephaly, growth failure, small eyes, shallow philtrum, thin upper lip, anomalous ears, ocular, orthopedic, and cardiac problems.