Crane-Heise syndrome: a second familial case report with elaboration of phenotype

The constellation of features in Crane-Heise syndrome (CHS) includes 1) poorly mineralized calvarium, 2) characteristic facial anomalies, and 3) extracranial skeletal anomalies that involve both vertebral anomalies and absent clavicles. Since the original report of Crane and Heise [1981: Pediatrics 68:235-237] describing three affected siblings, there have been few isolated cases published. We present two siblings from a second pedigree with features strikingly similar to those presented in the original publication, and distinct clinical differences, including distal phalangeal hypoplasia and mild cardiac and GI abnormalities that may represent familial variation. Despite extensive cytogenetic, molecular, and biochemical analyses, we could not elucidate a molecular mechanism for this rare phenotype.