chondrodysplasia


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Related to chondrodysplasia: Chondrodysplasia punctata

chondrodysplasia

 [kon″dro-dis-pla´zhah]
chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

chon·dro·dys·tro·phy

(kon'drō-dis'trō-fē),
A disturbance in the development of the cartilage primordia of the long bones, especially the region of the epiphysial plates, resulting in arrested growth of the long bones and dwarfism in which the limbs are abnormally short, but the head and trunk are essentially normal; autosomal recessive inheritance.
Synonym(s): chondrodysplasia
[chondro- + G. dys, bad, + trophē nourishment]
Farlex Partner Medical Dictionary © Farlex 2012

chondrodysplasia

Pediatric orthopedics A defect in development of cartilage especially of long bones, resulting in arrested growth and dwarfism
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

chon·dro·dys·tro·phy

(kon'drō-dis'trŏ-fē)
A disturbance in the development of the cartilage of the long bones, especially of the epiphysial plates, resulting in arrested growth and dwarfism in which the limbs are abnormally short, but the head and trunk are essentially normal.
Synonym(s): chondrodysplasia.
[chondro- + G. dys, bad, + trophē nourishment]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
(1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Finally, the patient was treated for precocious puberty due to 11-[beta]-hydroxilase deficiency and Schmid metaphyseal chondrodysplasia. After 5 months, testosterone level decreased to lower than 10 ng/dl and DHEA reached 27 mcg/dl.
Cervical spinal stenosis, which in some cases leads to cord compression and myelopathy, has been described in chondrodysplasia punctate of rhizomelic, brachytelephalangic, and Conradi-Hunermann types [13].
The type II colagenpathies: A spectrum of chondrodysplasias. Eur J Pediatr 1994; 153:56-65.
A genome wide association study and fine mapping for Chondrodysplasia of Texel sheep.
Cartilage hair hypoplasia (CHH) or metaphyseal chondrodysplasia was first described among Old Order Amish by McKusick et al.
Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.
We present another family that showed typical symptoms of Grebetype chondrodysplasia which segregated with a mutation in CDMP1.
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism with an estimated incidence of 1:1, 00, 000.
SOX5/SOX6 double-knockout mice show evidence of a severe, generalized chondrodysplasia indicating redundant functions of both transcriptor factors in chondrogenic differentiation [77].
Cystic transformation of the pancreas has also been described in a variety of congenital syndromes (187) including Ivemark syndrome, trisomy 13 or 15, Meckel-Gruber syndrome, Elejalde syndrome, glutaric aciduria, chondrodysplasia, short-rib polydactyly syndrome (Jeune syndrome and Saldino-Noonan type), (188) and others with no specific name.
AO-II is a lethal chondrodysplasia caused by collapse of the airways, resulting from abnormalities in the tracheal, laryncheal, and bronchial cartilage.

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