Baller-Gerold syndrome: Craniosynostosis-radial aplasia syndrome

Clinical Genetics (Impact Factor: 3.93). 03/1980; 17(2):161-6. DOI: 10.1111/j.1399-0004.1980.tb00126.x
Source: PubMed


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.

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    ABSTRACT: We report a patient with craniosynostosis, radial aplasia, imperforate anus, and several associated congenital anomalies. It is concluded that she has the Baller-Gerold syndrome. Parenteral consanguinity supports the suggestion that this condition is inherited in an autosomal recessive manner.
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    Clinical Genetics 06/1989; 35(5):322-30. DOI:10.1111/j.1399-0004.1989.tb02952.x · 3.93 Impact Factor
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