An aminopterin-like syndrome without aminopterin (ASSAS)

Area of Science:

• Medical Genetics
• Developmental Biology
• Teratology

Background:

• Aminopterin is a known teratogen causing specific birth defects when exposure occurs during early pregnancy.
• Identifying syndromes with similar phenotypes but unknown teratogen exposure is crucial for diagnosis and understanding developmental pathways.

Observation:

• Two patients presented with a phenotype mimicking aminopterin-induced syndrome, but lacked any history of maternal aminopterin exposure.
• Two similar cases from existing literature were identified, supporting the recognition of a distinct syndrome.

Findings:

• The proposed "aminopterin-like syndrome sine aminopterin" (ASSA) syndrome is characterized by a constellation of congenital anomalies.
• Key features include cranial ossification defects, distinctive hairline, hypertelorism, nasal root prominence, ear anomalies, limb and digital defects, short stature, and psychomotor retardation.

Implications:

• The existence of ASSA syndrome suggests potential genetic etiologies for phenotypes previously attributed solely to environmental teratogens.
• Recognition of ASSA syndrome aids in differential diagnosis for infants with complex congenital anomalies.
• Further research into the genetic basis and inheritance patterns, possibly autosomal recessive, is warranted.