Baller-Gerold Syndrome (BGS) is one of the syndromes associated with mutations in the RECQL4 gene. The author is from Universite de Franche-Comte in France.
Chromosome location: 8q24.3
Gene affected: RECQL4
Inheritance: autosomal recessive
Clinical features:
(1) brachycephaly secondary to coronal craniosynostosis, resulting in a bulging forehead and ocular proptosis
(2) defect in development of the radial ray with one or more of the following:
(2a) oligodactyly (reduction in the number of digitis)
(2b) hypoplasia or aplasia of the thumb
(2c) hypoplasia or aplasia of the radius
Supportive findings:
(1) growth retardation and/or failure to thrive
(2) poikilioderma (mottled hypopigmentation of the skin) starting in mid to late infancy or early childhood
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