Polymalformative teratogenic syndrome characterized by
short stature, skull anomalies, hydrocephalus, and facial anomalies
(abnormal auricles, hypertelorism, micrognathia, cleft palate).
Aminopterin Antenatal Infection.
Aminopterin is a folic acid antagonist that was
used both as an antineoplastic and an abortive agent in the 1950s and 1960s.
It is teratogenic when absorbed during the first trimester of pregnancy
(affecting the morphogenesis of 50% of embryos and fetuses).
Methotrexate, which is the methyl derivative of aminopterin, can have the
same effect in dosages greater than 10 mg/wk.
Diagnosis is clinical based on the drug ingestion
history and the dysmorphism of the fetus.
Drug ingestion causes fetal and early postnatal
death, but some infants survive beyond the first year. The main feature is
growth deficiency that usually has a prenatal onset and continues
postnatally. They are born with microcephaly and hypoplasia of most of the
cranial bones. Other facial feature findings are the presence of a broad
nasal bridge, shallow supraorbital ridges, prominent eyes, low-set ears,
epicanthal folds, micrognathia, and maxillary hypoplasia. Intelligence and
motor development are normal. Musculoskeletal findings are a relative
shortness of the limbs, mostly of the forearm, and talipes equinovarus.
Other occasional abnormalities, such as cleft palate, neural tube defect,
dextroposition of the heart, and hypotonia, are observed.
Carefully evaluate the airway.
Tracheal intubation may be difficult
because of the micrognathia and the maxillary hypoplasia, so have an
alternate intubation tool readily available.
Avoid long-acting muscular relaxants
until the airway is secured.
This syndrome can be compared to
other toxic antenatal expositions, such as fetal methotrexate syndrome,
fetal aminopterin-like syndrome (exposure to antifolate drugs other than
Retinoic Acid Embryopathy: Syndrome characterized by significant
anomalies in response to the teratogenic effects of retinoic acid
(isotretinoin, 1,3-cis-retinoic acid [Accutane]). The risk to the fetus is
usually present when maternal ingestion of Accutane occurs after day 15 of pregnancy.
The patient presents with microcephaly, facial asymmetry, facial nerve
palsy, micrognathia, and cleft palate. The cardiovascular system includes
conotruncal anomalies. Mental retardation and hydrocephalus have been
reported. There is an association with DiGeorge syndrome. Anesthetic
considerations include difficult airway management, hypocalcemia (because of
parathyroid gland dysfunction), and the potential for congenital heart
Fetal Aminopterin Syndrome: Characteristic pattern of mental and
physical birth defects resulting from maternal use of retinoids, the
synthetic derivatives of vitamin A, during pregnancy. Affects males and
females equally. Exact incidence is unknown, and because many cases of fetal
retinoid syndrome often go unrecognized, the disorder is underdiagnosed. The
most well-known retinoid is isotretinoin (Accutane®), a drug used for
treatment of severe cystic acne. The range and severity of associated
abnormalities vary greatly from case to case. Characteristic features may
include prenatal and postnatal growth retardation, craniofacial
malformations, and central nervous system abnormalities. The cardiovascular
system is generally affected ...