Report of three patients, including monozygotic twins and review of clinical and mutation profiles

We describe for the first time, cleft palate and delayed carpal bone ossification as features of Steel syndrome. We reviewed clinical features in all mutation-proven Steel syndrome patients. Short stature and dislocation/subluxation of hip joint are consistently observed. Other features include dislocated radial heads, scoliosis, lordosis, carpal coalition, facial dysmorphism, hearing loss, bilateral fifth finger clinodactyly, knee deformities and developmental delay. Seven missense variants and eight null variants are reported in COL27A1 until date. We also looked into the genotype-phenotype correlation in Puerto Rican and non-Puerto Rican patients.PMID:35568358 | DOI:10.1016/j.ejmg.2022.104521
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research