Progressive non-infectious anterior vertebral fusion in a baby with Saethre-Chotzen-acrocephalosyndactyly type III syndrome

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Abstract

We report on a 3-months old baby of Austrian origin and product of non-consanguineous parents. Abnormal craniofacial contour was the main deformity. The overall clinico-radiographic features were consistent with Saether-Chotzen-acrocephalosyndactyly type III syndrome. Bi-directional sequencing of the exon 8 and of the FGFR3-genes, exons 7 of FGFR3 (Fibroblast growth factor receptor3) genes, the exon 5 of the FGFR1 gene, revealed no mutations. Sagittal MRI imaging of the spine showed anterior vertebral fusion along the thoraco-lumbar vertebrae compatible with the non-infectious type.

About the authors

Ali Al Kaissi

Ludwig Boltzmann Institute of Osteology, First Medical Department, Hanusch Hospital, Vienna, Austria; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria

Email: ali.alkaissi@oss.at; ali.alkaissi@osteologie.at
MD, MSc, specialist in Paediatric Developmental Abnormalities of the Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.

Franz Grill

Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria

MD, PhD, professor, medical director of the Orthopaedic Hospital of Speising, Vienna, Austria

Rudolf Ganger

Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria

MD, PhD, orthopedic and trauma surgeon, head of Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria

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Copyright (c) 2015 Al Kaissi A., Grill F., Ganger R.

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