Article
Crane-Heise syndrome: a second familial case report with elaboration of phenotype.
American journal of medical genetics. Part A - 30 Apr 2003
Zand Dina J, Carpentieri David, Huff Dale, Medne Livija, Napierala Dobrawa, Lee Brendan, Zackai Elaine
Abstract excerpt
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...
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