CHARACTERISTIC DIAGNOSTIC CLUES OF METATROPIC
DYSPLASIA: THE LUMBOTHORACIC HUMPBACK WITH
DUMBBELL APPEARANCE OF THE LONG BONES
Gucev Z, Kalcev G, Laban N, Bozinovski Z, Popovski N,
Saveski A, Daskalov B, Plaseska-Karanfilska D, Tasic V
*Corresponding Author: Professor Zoran Gucev, Department for Endocrinology and Genetics, University
Children’s Hospital, Medical Faculty Skopje, Majka Teresa BB, Skopje 1000, Republic of Macedonia.
Tel.: +389-70-279-742. Fax: +389-3-226-356. E-mail: gucevz@gmail.com
page: 35
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1. Genevieve D, Le Merrer M, Feingold J, Munnich A,
Maroteaux P, Cormier-Daire V. Revisiting metatropic
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2. Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter
W, Kannu P, et al. TRPV4 related skeletal dysplasias:
a phenotypic spectrum highlighted byclinical, radiographic,
and molecular studies in 21 new families.
Orphanet J Rare Dis. 2011; 6: 37.
3. Bargiacchi S, Della Monica M, Biagiotti R, Andreucci
E, Ciabattoni S, Poggi P, et al. Metatropic dysplasia
in third trimester of pregnancy and a novel causative
variant in the TRPV4 gene. Eur J Med Genet. 2017;
60(7): 365-368. 4. Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae
JH, et al. TRPV4-pathy manifesting both skeletal
dysplasia and peripheral neuropathy: a report of
three patients. Am J Med Genet A. 2012; 158A(4):
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5. Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach
G, Stefanova I, Di Stefano CM, et al. Fetal akinesia
in metatropic dysplasia: The combined phenotype of
chon-drodysplasia and neuropathy? Am J Med Genet
A. 2011; 155A(11): 2860-2864.
6. Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan
R. Metatropic dysplasia: clinical and radiographic
findings in 11 patients demonstrating long-term natural
history. Am J Med Genet A. 2007; 143A(21):
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7. Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim
OH, et al. TRPV4-pathy, a novel channelopathy affecting
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