Autosomal recessive spondylocostal dysostosis

A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)