chondrodysplasia punctata/asthenia

Sábháiltear an nasc chuig an gearrthaisce

AiltTrialacha cliniciúlaPaitinní

Roghnaigh cineál sórtála

3 torthaí

Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

We present a male autopsied case of chondrodysplasia punctata with abnormal face, symmetrical proximal limb shortness, severe psychomotor developmental delay, respiratory muscle weakness, and death at the age of 2 years. Although his clinical manifestations were similar to those of rhizomelic

Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.

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Logáil Isteach / Cláraigh

OBJECTIVE Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias manifesting with progressive cervical instability that leads to neurological deficits and eventual death. The major clinical features of CDP also present in a phenocopy known as coumarin embryopathy (CE) which results from

Cervical instability in skeletal dysplasia. Report of 6 surgically fused cases.

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Logáil Isteach / Cláraigh

Six patients with skeletal dysplasias complicated by deformity or instability of the cervical spine were reviewed. Three patients had congenital spondyloepiphyseal dysplasia and 1 each suffered from Morquio's syndrome, pseudoachondroplasia, and chondrodystrophia calcificans congenita. Four patients

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Herbal & Natural Medicine

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