The cerebro-costo-mandibular syndrome: seven patients and review of the literature.
We report seven patients with the cerebro-costo-mandibular syndrome, a multiple congenital anomaly syndrome with, as the most distinctive features extreme micrognathia and abnormal rib development. Twice a parent to child transmission was found, compatible with autosomal dominant mode of inheritance. One of our patients presented with absence of the auditory canals and subluxation of the radial head, and another with choanal atresia, findings that have not been published previously. Longterm follow-up of some of the patients is described, and an overview of the literature is given.
van den Ende
J J
JJ
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Schrander-Stumpel
C
C
Rupprecht
E
E
Meinecke
P
P
Maroteaux
P
P
de Die-Smulders
C
C
Hamel
B C
BC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002754:Choanal Atresia / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004424:Ear Canal / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D011884:Radius / Q000002:abnormalities; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome