Baller‐Gerold syndrome Craniosynostosis‐radial aplasia syndrome

Abstract

A new case of the Baller‐Gerold syndrome is described in a 61/2‐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.

Genetics of Craniosynostosis

“…Occasional findings include ocular hypertelorism, epicanthic folds, a prominent nasal bridge, midline capillary hemangiomas, genitourinary malformations, and intellectual disability. 49 Autosomal recessive inheritance of mutations in the DNA helicase gene RECQL4 have been identified in a subgroup of Baller-Gerold patients. 50 Interestingly, mutations in TWIST1 have been identified in some patients with suspected Baller-Gerold syndrome and has suggested that some patients with this syndrome may overlap with Saethre-Chotzen syndrome.…”

Η Μελέτη Του Ρόλου Των Προγεννητικών Παραγόντων Στην Εμφάνιση Καλοήθων Και Κακοήθων Παθήσεων Του Κεντρικού Νευρικού Συστήμματος (ΚΝΣ) Στα Παιδιά

“…Και οι δύο έφεραν τρισωμία 15q25. Αναφορικά, πιο σπάνια σύνδρομα τα οποία μπορεί στον φαινότυπό τους να εμφανίζουν κρανιοστένωση είναι: το σύνδρομο Genoa, [633,634] το σύνδρομο Baller-Gerold (BGS), [635][636][637][638][639][640][641][642] το σύνδρομο Beare-Stevenson cutis gyrate [622,[643][644][645][646][647][648][649][650][651][652][653] (ελλειπτική μετάλλαξη στο FGFR2 [651] ), το σύνδρομο CAP [654] , η παρεγκεφαλοτριδυμικήδερματική δυσπλασία ή σύνδρομο Gomez-Lopez-Hernandez [655] (Gomez-Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia), το σύνδρομο Antley-Bixler, [656,657] το σύνδρομο Seckel, [658] το κρανιομικρομελικό σύνδρομο [659] .…”