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.
Zand
Dina J
DJ
Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, USA.
Carpentieri
David
D
Huff
Dale
D
Medne
Livija
L
Napierala
Dobrawa
D
Lee
Brendan
B
Zackai
Elaine
E
D000028:Abortion, Induced; D001842:Bone and Bones / Q000002:abnormalities*; D000013:Congenital Abnormalities; D005091:Exons; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005192:Family Health; D005260:Female; D005865:Gestational Age; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome