Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.
ABSTRACT A new case of the Baller-Gerold syndrome is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.
Journal of Assisted Reproduction and Genetics 12/1995; 13(1):79-81. DOI:10.1007/BF02068875 · 1.77 Impact Factor
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ABSTRACT: We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects. Am. J. Med. Genet. 80:303–308, 1998. © 1998 Wiley-Liss, Inc.American Journal of Medical Genetics 12/1998; 80(4):303 - 308. DOI:10.1002/(SICI)1096-8628(19981204)80:4<303::AID-AJMG1>3.0.CO;2-S · 3.23 Impact Factor
American Journal of Medical Genetics 03/1993; 45(6):743 - 744. DOI:10.1002/ajmg.1320450615 · 3.23 Impact Factor