Briefly Noted

Severe Neonatal Cutis Laxa Associated with High Mortality and Morbidity

Authors of this small series1describe a severe, generalized elastic-tissue autosomal recessive disorder in four infants, three of whom died at ages 4, 7, and 23 months. Severe cutis laxa of the face and upper extremities was present at birth. Multiple structures were impaired, including the pharynx, the lungs, and the gastrointestinal, skeletal, and genitourinary systems. The underlying defect — a marked disorganization of elastic tissue — is caused by a mutation of LTBP4 that disrupts the latent form of the transforming factor-β binding protein.

Bottom line: Early studies to determine the extent of internal organ involvement are prudent care for newborns with cutis laxa.…