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Weissenbacher–zweymüller Syndrome

Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α2 strand of collagen type XI.

Symptoms, risk factors and treatments of Weissenbacher–Zweymüller syndrome (Medical Condition) Weissenbacher–Zweymuller syndrome, also called ...

Weissenbacher-Zweymüller syndrome
Enable Javascript to view the expand/collapse boxes. Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually ...
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Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect
Department of Radiology, The Pennsylvania State University Children's Hospital, The Milton S. Hershey Medical Center, Hershey * Division of Genetics, Department of Pediatrics, The Pennsylvania State University College of Medicine, P.O. Box 850, Hershey, PA ...
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Weissenbacher-Zweymüller syndrome: A distinct autosomal recessive skeletal dysplasia
The Weissenbacher-Zweymüller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is ...
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The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.
Kelly TE, Wells HH, Tuck KB. The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin ...
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Anti-Collagen XI alpha 2 antibody (ab42708)
Defects in COL11A2 are the cause of Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]. WZS is an autosomal dominant disorder allelic with STL3 and OSMED. WZS is also referred to as heterozygous OSMED. Defects in COL11A2 are the cause of deafness ...
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Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene
A three generation family with Stickler syndrome is reported. Affected patients exhibited myopia with frequent retinal detachment or glaucoma. Most of them had characteristic facial dysmorphism, the Pierre-Robin sequence being observed in four individuals.
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Stickler Syndrome: A Physician’s Overview. What do you hear? It could just be a Zebra and not a Horse!
... Stickler syndrome as other problems develop Often confused with –Wagner’s syndrome –Marshall’s syndrome –Weissenbacher – Zweymueller’s syndrome Are there undiagnosed family members? 31 Management of Physical Issues Ocular ...
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Weissenbacher-Zweymüller Syndrome
WZS is closely related to a few other diseases - Pierre Robin with Fetal chondrodysplasia, Oto-Spondylo-Megaepiphyseal-dysplasia (OSMED) Heterzygous and autosomal dominant, and Stickler Syndrome Type III, and some scientist think that they just different ...
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Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect
Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymüller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. We report on identical twin male infants with skeletal findings typical of WZS ...
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Epidermolysis bullosa dystrophica - Wikipedia
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. "Butterfly child" is the colloquial name for a ...
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Connective Tissue Disorders | MedlinePlus
There are over 200 disorders that affect connective tissues. Examples include cellulitis, scars, and osteogenesis imperfecta. Learn more.
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