Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

ABSTRACT

the baller-gerold syndrome is a rare syndrome with very few cases published in literature. craniosynostosis and radial aplasia are striking features, easy to diagnose. however, there are many differential diagnoses. often, the question raised is whether the baller-gerald syndrome is a distinct entity. we report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the baller-gerold syndrome. genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases.

KEYWORDS

Baller-Gerold syndrome - craniosynostosis - crossed ectopia - ectopic kidneys - microcephaly - radial agenesis - radial club hand - reflux - renal agenesis - vesico ureteric reflux

• 1 Baller F. inbreeding. Z Menschl Inheritable Konstitutionsl 1950; 29: 782-90
• 2 Gerold M.. Healing of a fracture in an unusual case of congenital anomaly of the upper extremities. Zbl Chir 1959; 84: 831-4
• 3 Cohen MM. The child with multiple birth defects. ed 1993; 13-63
• 4 Ramos Fuentes FJ, Nicholson L, Scott Jr CI. Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature. Eur J Pediatr 1994; 153: 483-7
• 5 Cohen Jr MM. An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects 1975; 11: 137-89
• 6 Cohen Jr MM, Toriello HV. Is there a Baller-Gerold syndrome?. Am J Med Genet 1996; 61: 63-4
• 7 Anoop P, Sasidharan CK. Baller-Gerold syndrome. Indian J Pediatr 2002; 69: 1097-8
• 8 Cohen Jr MM, Toriello HV. Is there a Baller-Gerold syndrome?. Am J Med Genet 1996; 61: 63-4
• 9 Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome. Am J Med Genet 1999; 82: 170-6
• 10 Temtamy SA, Aglan MS, Nemat A, Eid M. Expanding the phenotypic spectrum of the Baller-Gerold syndrome. Genet Couns 2003; 14: 299-312
• 11 Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ. Further delineation of the Baller-Gerold syndrome. Am J Med Genet 1993; 45: 519-24
• 12 Huson SM, Rodgers CS, Hall CM, Winter RM. The Baller-Gerold syndrome: Phenotypic and cytogenetic overlap with Roberts syndrome. J Med Genet 1990; 27: 371-5
• 13 Farrell SA, Paes BA, Lewis ME. Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. Am J Med Genet 1994; 50: 98-9
• 14 Seto ML, Lee SL, Sze RW, Cunningham ML. Another TWIST on Baller-Gerold syndrome. Am J Med Genet 2001; 104: 323-30