- Chondrodysplasia punctata: Multiple variants of chondrodysplasia punctata exist. A patient with Conradi–Hünermann syndrome is shown above.
- Vitamin K disorders: Warfarin embryopathy, Vitamin K reductase deficiency. Exposure to warfarin between the 6th and 9th weeks of gestation. The distal phalanges are very short and often shaped like an inverted triangle.
- Zellweger syndrome: Also known as cerebro-hepatorenal syndrome. Peroxisomal disorder. Severely hypotonic infants with a high forehead, hypertelorism, epicanthic folds, and shallow supraorbital ridges. May have Brushfield spots. Club foot deformity is common. Puncta occur primarily in the patella. Cortical cystic disease in the kidneys. Migrational disorders in the brain.
- Trisomies: 21 and 18
- Drug exposure: Warfarin (see above), alcohol, hydantoin, phenacetin.
- Poznanski AK. Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol. 1994;24(6):418-24, 436.
- Savarirayan R. Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX). Pediatr Radiol. 1999 May;29(5):322.