The Antley-Bixler syndrome - 12/10/17
Doi : 10.1016/S0022-3476(82)80117-0
Luther K. Robinson, M.D. a, b, Nancy G. Powers, M.D. a, b, Patricia Dunklee, M.D. a, b, Sanford Sherman, M.D. a, b, Kenneth L. Jones, M.D. a, b, ⁎
a Division of Dysmorphology, the Department of Pediatrics, University of California, San Diego, La Jolla Calif. USA
b Department of Medical Genetics, Children's Hospital, Oakland, Calif. USA
*Reprint address: University Hospital, Department of Pediatrics H-814-B, 225 W. Dickinson St., San Diego, CA 92103.
Abstract |
Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.
Le texte complet de cet article est disponible en PDF.| + | Supported by The March of Dimes Birth Defects Foundation. |
© 1982
Publié par Elsevier Masson SAS.
Vol 101 - N° 2
P. 201-205 - août 1982 Retour au numéro
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