Crane-Heise syndrome: two further case reports

Abstract

Crane-Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, vertebral anomalies and absent clavicles. Since then, to our knowledge, only one isolated case and two siblings were reported with similar findings. We present two further cases, diagnosed after termination of pregnancy at 24 weeks' gestation in one case and straight after birth in the other, both very similar to the previously reported ones, and broaden the clinical spectrum of this entity. To our knowledge, no molecular mechanism has been identified in Crane-Heise syndrome so far.