Baller‐Gerold syndrome: An 11th case of craniosynostosis and radial aplasia

Abstract

We report on a patient with craniosynostosis, left radius aplasia, right radius hypoplasia, and other congenital anomalies. This is the 11th reported case of the Baller-Gerold syndrome. Autosomal recessive inheritance of this syndrome is suggested by evidence of probable parental consanguinity.

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

“…The patient's sister was born with similar malformations and died during infancy. Since then other case reports have extended the diagnosis of Baller-Gerold syndrome to in-clude multiple additional anomalies, such as anal anomalies including imperforate anus or anteriorly positioned anus [Greitzer et al, 1974;Feingold et al, 1979;Anyane-Yeboa et al, 1980;Boudreaux et al, 1990;Dallapiccola et al, 1992;van Maldergem et al, 1992;Lin et al, 1993], cardiac anomalies including ventricular septum defect and tetralogy of Fallot [Greitzer et al, 1974;Lin et al, 1993], and CNS abnormalities, such as polymicrogyria, hydrocephalus, agenesis of the corpus callosum or seizure disorders [Greitzer et al, 1974;Feingold et al, 1979;Pelias et al, 1981;Boudreaux et al, 1990;Dallapiccola et al, 1992;Dunac et al, 1995]. Of particular interest to the delineation of Baller-Gerold syndrome are numerous reports showing overlap with other congenital malformation syndromes and an association.…”

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

“…3 A limited number of additional patients have been reported since then. [5][6][7][8][9][10][11][12] Clinical overlap with other syndromes became more obvious when clinical diagnoses of BGS were subsequently challenged by cytogenetic or molecular tests that revealed a diagnosis of Fanconi anaemia, [13][14][15][16][17][18] Roberts SC syndrome, 19 or Saethre-Chotzen (OMIM 101400) syndrome. TWIST mutations are found in the latter condition and are usually associated with a broad fingers-receding forehead craniosynostosis phenotype, but anecdotal patients may also display radial hypoplasia.…”

Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature

“…Currently, the diagnosis of B G S is based on the presence of craniosynostosis and preaxial anomalies in the upper extremities and 21 cases have b e e n reported in the western literature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16]. Table 1 includes clinical manifestations, radiological a n o m a l i e s a n d laboratory findings reported in m o r e than 25% of the cases.…”

“…Consanguinity has been reported in four cases [3,4,13,15], suggesting autosomal recessive inheritance. Despite of the finding of brachycephaly in the father of one patient [12] and the facial anomalies in the mother of another [14], autosomal dominant inheritance with variable penetrance seems unlikely.…”