نتایج جستجو برای: congenital disorder

تعداد نتایج: 698577  

2016
A. Vasanthakumari

Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. It belongs to a group of disorders called chondrodystrophies or osteochondrodysplasias. It is a congenital genetic disorder resulting in rhizomedic dwarfism and is the most common skeletal dysplasia. This case report highlights the oral manifestation of a 3 year old male patient with achondroplasia.

Journal: :Cortex; a journal devoted to the study of the nervous system and behavior 2008
Sarah Bate Catherine Haslam Jeremy J Tree Timothy L Hodgson

While extensive work has examined the role of covert recognition in acquired prosopagnosia, little attention has been directed to this process in the congenital form of the disorder. Indeed, evidence of covert recognition has only been demonstrated in one congenital case in which autonomic measures provided evidence of recognition (Jones and Tranel, 2001), whereas two investigations using behav...

2006

Red cell aplasia in children is a condition characterised by failure of erythropoiesis, with normal production of white blood cells and platelets. The disorder is either acquired or constitutional (congenital or inherited). The constitutional disorder is usually permanent, while the acquired variety is often transient, and thereby differs from adult pure red cell aplasia. As the treatment and p...

Journal: :Journal of medical genetics 1978
M C Higginbottom K L Jones F H Kung T K Koch J L Boyer

This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.

2017
Sheryl K Ramdass Kah Poh Loh Leslie M Howard

Congenital factor VII deficiency (FVIID) is a rare disorder with a wide range of bleeding manifestations. The disorder does not protect patients against occurrence of thrombosis, and deep vein thrombosis can occur in the setting of surgery and recombinant factor VIIa replacement.

Journal: :Pediatrics 2006
Ronald D Cohn Erik Eklund Amanda L Bergner James F Casella S Lee Woods Janyne Althaus Karin J Blakemore Harold E Fox Julie E Hoover-Fong Ada Hamosh Nancy E Braverman Hudson H Freeze Simeon A Boyadjiev

Intracranial hemorrhage in a term neonate is a rare event in the absence of an identifiable precipitating factor such as severe thrombocytopenia, mechanical trauma, asphyxia, infections, or congenital vascular malformations. Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number ...

2006

Red cell aplasia in children is a condition characterised by failure of erythropoiesis, with normal production of white blood cells and platelets. The disorder is either acquired or constitutional (congenital or inherited). The constitutional disorder is usually permanent, while the acquired variety is often transient, and thereby differs from adult pure red cell aplasia. As the treatment and p...

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