OMIM Entry (NCBI) - 227280
Title

227280 FACIOCARDIORENAL SYNDROME
;;EASTMAN-BIXLER SYNDROME


Text

Eastman and Bixler (1977) described a seemingly 'new' syndrome of which
the major components are horseshoe kidneys, severe mental retardation,
characteristic facies (broad nasal bridge, large chin, open mouth), and
heart defect (conduction defects, cardiac enlargement, endocardial
fibroelastosis). Two brothers and a sister were affected. The
interpretation of the pedigree was complicated by the fact that a
possibly independent, dominant neurologic disorder was also segregating
in the family: the father, paternal uncle and paternal grandmother had
what the authors termed a static peripheral neuropathy. However, the
clinical features included hyperactive deep tendon reflexes in the legs,
ankle clonus, and bilateral Babinski reflexes. Nevin et al. (1991)
described this syndrome in a 5-year-old boy who also had isolated growth
hormone deficiency which responded successfully to treatment.


References

1. Eastman, J. R.; Bixler, D.: Facio-cardio-renal syndrome: a newly
delineated recessive disorder. Clin. Genet. 11: 424-430, 1977.
2. Nevin, N. C.; Hill, A. E.; Carson, D. J.: Facio-cardio-renal (Eastman-Bixler
)
syndrome. Am. J. Med. Genet. 40: 31-33, 1991.

Clinical Synopsis

GU:
   Horseshoe kidneys
Neuro:
   Severe mental retardation;
   Hyperactive deep tendon reflexes in the legs;
   Ankle clonus;
   Bilateral Babinski reflexes
HEENT:
   Broad nasal bridge;
   Large chin;
   Open mouth
Cardiac:
   Conduction defect;
   Cardiac enlargement;
   Endocardial fibroelastosis
Endo:
   Isolated growth hormone deficiency
Inheritance:
   Autosomal recessive


Victor A. McKusick: 6/3/1986Edit Dates :
mimadm: 2/19/1994
supermim: 3/16/1992
carol: 8/19/1991
supermim: 3/20/1990
ddp: 10/26/1989
marie: 3/25/1988