Grebe Syndrome
Abstract
ACHONDROGENESIS, BRAZILIANGREBE
CHONDRODYSPLASIA
GREBE DYSPLASIA
ACROMESOMELIC DYSPLASIA,
GREBE TYPE; AMDG
ACHONDROGENESIS, TYPE II.
Phenotype Gene Relationships
OMIM NUMBER -200700
Inheritance- Autosomal Recessive.
Gene map locus -20q11.2
We are reporting a rare case of GREBE
SYNDROME, referred to our genetic
clinic from the Department of Paediatrics,
Chinglepet Medical college Hospital.So
far in the world only around 700 cases
have been reported.
Full Text:
PDFReferences
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Figure 2: Complete body radiograph shows
a normal axial skeleton and rib cage, relatively
normal humeri and femora, marked
shortening of radii/ulnaeand tibiae with
absence of fibulae bilaterally. There is
almost completeagenesis of hands
and feet bones except for few rudimentary
phalanges.
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