Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]

Cantu,J. M.

January 1995

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous...

The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El s�ndrome de la "Isla de la Fantas�a". Individualizaci�n de una nueva osteocondrodisplasia probablemente autos�mica dominante.]

Cantu, J.M.

January 1995

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous...

BRACHY ECTRODACTYLY AND ABSENCE OR HYPOPLASIA OF THE FIBULA - AN AUTOSOMAL DOMINANT CONDITION WITH LOW PENETRANCE AND VARIABLE EXPRESSIVITY

GENUARDI, M (ORCID:0000-0002-7410-8351)
ZOLLINO, M (ORCID:0000-0003-4871-9519)

January 1990

A complex dysostosis characterized by brachy- and/or ectrodactyly and fibular hypoplasia was found i...

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

Hernandez, A.
Nazara, Z.
Reynoso, M.C.
Lizcano-Gil, L.A.
Lopez, R.
Sarralde, A.
Fragoso, R.

January 1996

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads: A father and son wi...

FAMILIAL EPWHYSIAL DYSPLASL & OF THE LOWER LIMBS

H. Weinberg
M. Frankel
M. Makin
E. Vas

September 2016

The clinical entity called “ dysplasia epiphysialis multiplex “ was first described by Fairbank in 1...

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

Figuera, L.E.
Ramirez-Duenas, M.L.
Gallegos-Arreola, M.P.
Cantu, J.M.

January 1994

Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewis...

Am J Med Genet

Rajab, A.
Kunze, J.
Mundlos, S.

May 2004

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED...

Osteoglophonic dwarfism in two generations

October 2016

SUMMARY A father and son, both affected by a skeletal dysplasia with severe craniofacial deform-itie...

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

Morava, E.
Illes, T.
Weisenbach, J.
Karteszi, J.
Kosztolanyi, G.Y.

January 2003

Item does not contain fulltextFrontometaphyseal dysplasia is a rare genetic syndrome affecting the s...

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families

Morava, Eva
Illés, Tamás
Weisenbach, János
Kárteszi, Judit
Kosztolányi, György

January 2003

Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective ...

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Unger, S.
Bonafé, L.
Superti-Furga, A.

March 2008

Multiple epiphyseal dysplasia is one of the more common skeletal dysplasias but it can still be diff...

Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

Morstert, AK
Dijkstra, PF
van Horn, [No Value]
Jansen, BRH
Heutink, P
Lindhout, D

July 2002

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsba...

Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy

Arendse R.
Brink P.
Beighton P.

January 2009

A father and daughter both had multiple pathological fractures and nodal osteoarthropathy. The fathe...

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

Rajab, A.
Kunze, J.
Mundlos, Stefan

January 2004

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED...

An unusual form of spondyloepiphyseal dysplasia with advanced carpal and spinal end-plate ossification mimicking comp-mutation-like multiple epiphyseal dysplasia.

PAZZAGLIA U
BELUFFI G
ZARATTINI G

January 2008

We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. T...

[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]

Cantu,J. M.

January 1995

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous...

The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El s�ndrome de la "Isla de la Fantas�a". Individualizaci�n de una nueva osteocondrodisplasia probablemente autos�mica dominante.]

Cantu, J.M.

January 1995

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous...

BRACHY ECTRODACTYLY AND ABSENCE OR HYPOPLASIA OF THE FIBULA - AN AUTOSOMAL DOMINANT CONDITION WITH LOW PENETRANCE AND VARIABLE EXPRESSIVITY

GENUARDI, M (ORCID:0000-0002-7410-8351)
ZOLLINO, M (ORCID:0000-0003-4871-9519)

January 1990

A complex dysostosis characterized by brachy- and/or ectrodactyly and fibular hypoplasia was found i...

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

Hernandez, A.
Nazara, Z.
Reynoso, M.C.
Lizcano-Gil, L.A.
Lopez, R.
Sarralde, A.
Fragoso, R.

January 1996

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads: A father and son wi...

FAMILIAL EPWHYSIAL DYSPLASL & OF THE LOWER LIMBS

H. Weinberg
M. Frankel
M. Makin
E. Vas

September 2016

The clinical entity called “ dysplasia epiphysialis multiplex “ was first described by Fairbank in 1...

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

Figuera, L.E.
Ramirez-Duenas, M.L.
Gallegos-Arreola, M.P.
Cantu, J.M.

January 1994

Recently a distinct spondyloepimetaphyseal dysplasia (SEMD) was reported in three members of a Jewis...

Am J Med Genet

Rajab, A.
Kunze, J.
Mundlos, S.

May 2004

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED...

Osteoglophonic dwarfism in two generations

October 2016

SUMMARY A father and son, both affected by a skeletal dysplasia with severe craniofacial deform-itie...

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

Morava, E.
Illes, T.
Weisenbach, J.
Karteszi, J.
Kosztolanyi, G.Y.

January 2003

Item does not contain fulltextFrontometaphyseal dysplasia is a rare genetic syndrome affecting the s...

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families

Morava, Eva
Illés, Tamás
Weisenbach, János
Kárteszi, Judit
Kosztolányi, György

January 2003

Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective ...

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Unger, S.
Bonafé, L.
Superti-Furga, A.

March 2008

Multiple epiphyseal dysplasia is one of the more common skeletal dysplasias but it can still be diff...

Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

Morstert, AK
Dijkstra, PF
van Horn, [No Value]
Jansen, BRH
Heutink, P
Lindhout, D

July 2002

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsba...

Hereditary bone dysplasia with pathological fractures and nodal osteoarthropathy

Arendse R.
Brink P.
Beighton P.

January 2009

A father and daughter both had multiple pathological fractures and nodal osteoarthropathy. The fathe...

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

Rajab, A.
Kunze, J.
Mundlos, Stefan

January 2004

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED...

An unusual form of spondyloepiphyseal dysplasia with advanced carpal and spinal end-plate ossification mimicking comp-mutation-like multiple epiphyseal dysplasia.

PAZZAGLIA U
BELUFFI G
ZARATTINI G

January 2008

We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. T...

[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type]

Cantu,J. M.

January 1995

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous...

The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El s�ndrome de la "Isla de la Fantas�a". Individualizaci�n de una nueva osteocondrodisplasia probablemente autos�mica dominante.]

Cantu, J.M.

January 1995

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous...

BRACHY ECTRODACTYLY AND ABSENCE OR HYPOPLASIA OF THE FIBULA - AN AUTOSOMAL DOMINANT CONDITION WITH LOW PENETRANCE AND VARIABLE EXPRESSIVITY

GENUARDI, M (ORCID:0000-0002-7410-8351)
ZOLLINO, M (ORCID:0000-0003-4871-9519)

January 1990

A complex dysostosis characterized by brachy- and/or ectrodactyly and fibular hypoplasia was found i...

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

Abstract

Extracted data

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

Abstract

Extracted data

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