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Crane‐Heise syndrome: A second familial case report with elaboration of phenotype
Author(s) -
Zand Dina J.,
Carpentieri David,
Huff Dale,
Medne Livija,
Napierala Dobrawa,
Lee Brendan,
Zackai Elaine
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10026
Subject(s) - phenotype , hypoplasia , genetics , biology , medicine , anatomy , gene
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. © 2003 Wiley‐Liss, Inc.