BALLER-GEROLD SYNDROME

This syndrome is inherited as an autosomal recessive condition. The infants are usually mentally deficient with 20% of liveborns dying in the first year of life.

• IUGR.
• Craniofacial anomalies.
• Craniosynostosis (any or all sutures) (100%).
• Low set posteriorly rotated ears (64%).
• Micrognathia (50%).
• Microstomia (32%).
• Limbs.
• Radial aplasia/hypoplasia (77%).
• Ulna, short and curved (68%).
• Missing carpals, metacarpals and phalanges and fused carpals.
• Thumbs, absent or hypoplastic (100%).
• Gastrointestinal.
• Imperforate anus (40%).
• Genitourinary (35%).
• Ectopic, hypoplastic, dysplastic or absent kidney.

REFERENCES

1. Ramos-Fuentes FJ. Phenotypic variability in the Baller-Gerold syndrome. Report of a mildly affected patient and review of the literature. Eur J Pediatr 1994;153:483.
2. Lin AE. Further delineation of the Baller-Gerold syndrome. Am J Med Genet 1993;45:519.