Dyggve-Melchior-Clausen Syndrome

被引：5

作者：

Gupta, V. ^{[1
]}

Kohli, A. ^{[1
]}

Dewan, V. ^{[1
]}

机构：

[1] Dr Ram Manohar Lohia Hosp, Dept Pediat & Neonatol, New Delhi, India

来源：

INDIAN PEDIATRICS | 2010年 / 47卷 / 11期

关键词：

Dyggve-Melchior-Clausen syndrome; Spondylo-epi-metaphyseal dysplasia;

D O I：

10.1007/s13312-010-0151-x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Dyggve-Melchior-Clausen syndrome is a rare autosomal-recessive disorder characterized by progressive spondylo epi-metaphyseal dysplasia associated with mental retardation The clinical and radiological findings resembles Morquio disease at the onset of condition which may hinder its diagnosis Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported

引用

页码：973 / 975

页数：3

共 50 条

[41] A homozygous nonsense variant inDYMunderlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features
Abdullah
Shah, Pashmina Wiqar
Nawaz, Shoaib
Hussain, Shabir
Ullah, Asmat
Basit, Sulman
Ahmad, Wasim
MOLECULAR BIOLOGY REPORTS, 2020, 47 (09) : 7083 - 7088
[42] The Dyggve-Melchior-Clausen syndrome:: differential diagnosis of mucopolysaccharidosis type IV or Morquio's syndrome
Coëslier, A
Boute-Bénéjean, O
Moerman, A
Fron, D
Manouvrier-Hanu, S
ARCHIVES DE PEDIATRIE, 2001, 8 (08): : 838 - 842
[43] Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation
Khalifa, Ola
Imtiaz, Faiqa
Al-Sakati, Nadia
Al-Manea, Khalid
Verloes, Alain
Al-Owain, Mohammed
EUROPEAN JOURNAL OF PEDIATRICS, 2011, 170 (01) : 121 - 126
[44] Dyggve-Melchior-Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic
Osipovich, Anna B.
Jennings, Jennifer L.
Lin, Qing
Link, Andrew J.
Ruley, H. Earl
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (42) : 16171 - 16176
[45] A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
Gaboon, Nagwa E. A.
Parveen, Asia
Ahmad, Khaled A.
Shuaib, Taghreed
Al-Aama, Jumana Y.
Abdelwehab, Lereen
Arif, Amina
Wasif, Naveed
FRONTIERS IN PEDIATRICS, 2020, 8
[46] Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome
Girisha, K. M.
Cormier-Daire, Valerie
Heuertz, Solange
Phadke, Rajendra V.
Phadke, Shubha R.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2008, 51 (03) : 251 - 256
[47] Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: A mid-term assessment of siblings
Nectoux, E.
Hocquet, B.
Fron, D.
Mezel, A.
Paris, A.
Herbaux, B.
ORTHOPAEDICS & TRAUMATOLOGY-SURGERY & RESEARCH, 2013, 99 (06) : 745 - 748
[48] Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome
Shah, Abhidha
Bhambere, Sagar
Ranjan, Shashi
Dandpat, Saswat
Goel, Atul
TURKISH NEUROSURGERY, 2020, 30 (06) : 956 - 960
[49] Gene discovery in the allelic disorders Smith-McCort Dysplasia and Dyggve-Melchior-Clausen syndrome
van Raamsdonk, J
CLINICAL GENETICS, 2003, 63 (06) : 460 - 461
[50] Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome
El Ghouzzi, V
Dagoneau, N
Kinning, E
Thauvin-Robinet, C
Chemaitilly, W
Prost-Squarcioni, C
Al-Gazall, LI
Verloes, A
Le Merrer, M
Munnich, A
Trembath, RC
Cormier-Daire, V
HUMAN MOLECULAR GENETICS, 2003, 12 (03) : 357 - 364

← 1 2 3 4 5 →