نتایج جستجو برای: cutis marmorata telangictatica congenital

تعداد نتایج: 122724  

2016
Andrew J. Hearn Joanna Ross Henry Bernard Soffian Abu Bakar Luke T. B. Hunter David W. Macdonald

The marbled cat Pardofelis marmorata is a poorly known wild cat that has a broad distribution across much of the Indomalayan ecorealm. This felid is thought to exist at low population densities throughout its range, yet no estimates of its abundance exist, hampering assessment of its conservation status. To investigate the distribution and abundance of marbled cats we conducted intensive, felid...

2005

Analysis of the relative amounts of the acetylcholine receptors (AChR) and of the 43K protein present in the membrane of developing electrocyte shows that massive accumulation of 43K protein is not required for induction of early AChR clustering. Furthermore, we demonstrate the existence of cytosoland membraneassociated 43K polypeptide pools in Torpedo electrocyte. Epitope analysis shows that b...

Journal: :The West Indian medical journal 2008
M Seyhan M Esrefoğlu H Ozcan A Akinci

Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders. It is characterized by degenerative changes in elastic fibres and manifests with skin laxity. Here we presented a six-month old boy with congenital cutis laxa associated with growth retardation. We reveal ultrastructural findings and discussed the differential diagnosis.

Journal: :Journal of medical genetics 1987
M A Patton J Tolmie P Ruthnum S Bamforth M Baraitser M Pembrey

Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct and is likely to be autosomal recessive in view of the two brother-sister sib pa...

2016
Sung-Min Park Byung-Soo Kim Moon-Bum Kim Hyun-Chang Ko

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, w...

2014
Mohajerzadeh Leily Sadeghian Naser Mirshemirani Aliraza Khaleghnejad Tabari Ahmad Rouzrokh Mohsen Jafari Nahid

Congenital cutis laxa is a genetically heterogeneous condition presenting in the newborn with loose, redundant skin folds, decreased elasticity of the skin, and general connective tissue involvement. A 2-day-old full term neonate with congenital cutis laxa presented with respiratory distress. Investigations revealed huge hiatal hernia. Patient underwent loose Nissen's fundoplication. In postope...

Journal: :Indian Pediatrics 2012

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