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References (4)
-
J. Eastman, D. Bixler (1977)
Facio‐cardio‐renal syndrome: a newly delineated recessive disorderClinical Genetics, 11
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JR Eastman, D Bixler (1977)
Facio‐cardio‐renal syndrome: A newly delineated recessive syndrome, 11
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D Bixler, JC Christian, RJ Gorlin (1969)
Hypertelorism, microtia and facial clefting: A new inherited syndrome. March of Dimes, V
-
G. Malpuech, F. Demeocq, J. Palcoux, P. Vanlieferinghen (1983)
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.American journal of medical genetics, 16 4
- Publisher
- Wiley
- Copyright
- Copyright © 1991 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320400106
- pmid
- 1887846
- Publisher site
- See Article on Publisher Site
Abstract
We report on a 5‐year‐old boy with moderate mental retardation, horseshoe kidneys, tricuspid valve prolapse, and a characteristic face with broad nasal root, prominent ears, and a cleft palate. These manifestations suggested the diagnosis of the Eastman‐Bixler syndrome. Our patient also had an isolated growth hormone deficiency which responded successfully to treatment.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1991
Keywords: ; ; ; ; ;