| |
UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype* * We have recently revised the acronym CATCH22 to the CATCH phenotype to reflect unease at the ‘no win’ implication of the former label 4,5 . Retaining an all-encompassing acronym that stands for Cardiac Abnormality, T-cell deficits, Clefting and Hypocalcaemia can be defended because of the wide range of eponymous syndromes described in affected individuals. Some reflect the differing professional emphasis of those who provided the original reports; DiGeorge syndrome concentrates on the thymic and parathyroid hypoplasia while the Velocardiofacial syndrome reported by Shprintzen et al. took the craniofacial perspective. Takao et al. saw the phenotype from the cardiological angle with their Contruncal Anomaly Face syndrome while the lesser-known Strong syndrome was the first to emphasize the variable dominant disorder producing outflow tract, facial and psychiatric disturbance in different family members. Also included in the acronym are the less common and distinct phenotypes of Opitz G/BBB and Cayler asymmetric crying face syndrome, neither of which is exclusive to 22q11 deletion.
|
| |
|
Tijdschrift beschrijving