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

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.

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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.
    American Journal of Medical Genetics 01/1981; 10(2):133-9. DOI:10.1002/ajmg.1320100206 · 3.23 Impact Factor
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    ABSTRACT: In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt-Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray-choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counselling.
    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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    ABSTRACT: A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of this condition. This case raises the question as to whether the Baller-Gerold syndrome can be considered as a distinct entity. It is suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and that known Roberts syndrome survivors are reviewed for signs of craniostenosis.
    Journal of Medical Genetics 07/1990; 27(6):371-5. DOI:10.1136/jmg.27.6.371 · 6.34 Impact Factor
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