Aminopterin-Induced Fetal Malformation

Fetal methotrexate/aminopterin syndrome in an adult: a likely case with ectodermal abnormalities

“…Sparsity of eyebrows has been the most consistent finding. The proband had delayed and slow growth of scalp hair in early childhood but as an adult her thick and coarse scalp hair was similar to four out of the five earlier reported adults (Shaw and Steinbach, 1968;Reich et al, 1978). Hypoplastic fingernails have also been reported but may reflect the underlying digital hypoplasia.…”

“…Several reports of affected children have been observed (Milunsky et al, 1968;Powell and Eckert, 1971;Howard and Rudd 1977;Wheeler et al, 2002;Adam et al, 2003). A 17-year-old girl was briefly reported (Shaw and Rees, 1980) and five adults have been reported (Shaw and Steinbach, 1968;Reich et al, 1978;Bawle et al, 1998). The clinical features of a 45-year-old patient who was likely exposed to this drug are compared with the earlier reported cases and additional findings are presented.…”

“…The pattern of malformation consists of pre-and postnatal growth deficiency, skull ossification defects that include hypoplastic frontal bones, large anterior fontanelle and parietal foramina, hypertelorism, shallow orbits with associated prominent eyes, malformed or low set ears and various skeletal abnormalities including missing digits. Psychomotor development tends to be normal with few exceptions (Shaw and Steinbach, 1968;Bawle et al, 1998;Del Campo et al, 1999). Several reports of affected children have been observed (Milunsky et al, 1968;Powell and Eckert, 1971;Howard and Rudd 1977;Wheeler et al, 2002;Adam et al, 2003).…”

Considering the Embryopathogenesis of VACTERL Association

“…Gestational exposure to certain other drugs and chemicals (anticonvulsants, folic acid antagonists, alcohol) has also been linked to one or more of the VACTERL malformations, but none has been implicated in the full group of major VACTERL malformations [Milunsky et al, 1968;Shaw and Steinbach, 1968;Hanson and Smith, 1975;Hanson et al, 1976].…”

Differential Diagnosis of Holes in the Calvarium: Application of Modern Clinical Data to Palaeopathology

“…This practice was discontinued when it was found that a fetus which actually survived to term showed severe developmental malformations including sutural line abnormalities. Shaw and Steinbach (1968) described a case where the fetus survived to term and was born with a cranium bifidum (a congenital condition one feature of which is persistence and abnormal widening of the metopic (frontal) suture). Radiographs taken when the individual was…”