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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
Faciocardiorenal syndrome is a rare genetic disorder characterized by facial dysmorphisms, congenital heart defects, and the presence of a horseshoe kidney , alongside intellectual disabilities .[2] Facial dysmorphisms include protruding ears , narrowing of the mouth, cleft palate , hypertelorism , etc.[3] Only 4 cases from the United States,[4] Northern Ireland ,[5] and Mexico[6] have been described in the medical literature.[7] Transmission is, presumably, autosomal recessive .[2]
References [ edit ]
^ "Faciocardiorenal syndrome – About the Disease – Genetic and Rare Diseases Information Center" . rarediseases.info.nih.gov . Retrieved October 28, 2022 .
^ Eastman, J. R.; Bixler, D. (June 1977). "Facio-cardio-renal syndrome: a newly delineated recessive disorder" . Clinical Genetics . 11 (6 ): 424–430. doi :10.1111/j.1399-0004.1977.tb01339.x . ISSN 0009-9163 . PMID 880742 . S2CID 26478777 .
^ Nevin, N. C.; Hill, A. E.; Carson, D. J. (July 1, 1991). "Facio-cardio-renal (Eastman-Bixler) syndrome" . American Journal of Medical Genetics . 40 (1 ): 31–33. doi :10.1002/ajmg.1320400106 . ISSN 0148-7299 . PMID 1887846 .
^ Brambila Tapia, A. J. L.; Vásquez Velásque, A. I.; González Mercado, M. G.; Macías Chumacera, A.; Gutierrez-Amavizca, B. E.; Lara Aguilar, R. A.; Pérez Juárez, Canton R.; Moreno Andrade, A.; Figuera, L. E. (2012). "Faciocardiorenal syndrome: a wide clinical spectrum?" . Genetic Counseling (Geneva, Switzerland) . 23 (1 ): 51–56. ISSN 1015-8146 . PMID 22611642 .
^ "Entry – 227280 – Faciocardiorenal syndrome – OMIM" . omim.org . Retrieved October 28, 2022 .
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R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Faciocardiorenal_syndrome&oldid=1182854660 "
C a t e g o r i e s :
● A u t o s o m a l r e c e s s i v e d i s o r d e r s
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● C o n g e n i t a l d i s o r d e r s
● G e n e t i c d i s o r d e r s t u b s
H i d d e n c a t e g o r i e s :
● U s e m d y d a t e s f r o m O c t o b e r 2 0 2 2
● A r t i c l e s w i t h s h o r t d e s c r i p t i o n
● S h o r t d e s c r i p t i o n i s d i f f e r e n t f r o m W i k i d a t a
● A l l s t u b a r t i c l e s
● T h i s p a g e w a s l a s t e d i t e d o n 3 1 O c t o b e r 2 0 2 3 , a t 1 9 : 4 5 ( U T C ) .
● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n .
● P r i v a c y p o l i c y
● A b o u t W i k i p e d i a
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