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This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.

This review discusses congenital generalized hypertrichosis, focusing on its association with complex malformation syndromes, but it presents no new research findings.

This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.

This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.

Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.