نتایج جستجو برای: polydactyly
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Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.
It is the intent of this article to describe, compare and contrast the usual form of the trait for polydactylism in cats especially in Maine Coon Cats. The usual form of polydactyly will be defined as the trait commonly seem in Maine Coon Cat especially those familiar to organizations such as Mcpolys (http://www.mcpolys.com) This discussion will show that the usual gene for polydactylism is har...
Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This incompatible with life. We report case diagnosed on fetal ultrasound at gestational age of 22 SA 6 days, presenting the clinical triad syndrome. A medical termination pregnancy was indicated. From this rare case, through review literature, we will discuss...
BACKGROUND Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. OBJECTIVE To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-o...
Polydactyly is a most common congenital hand defects in which the hand has one or more extra fingers, commonly seen postaxial, that is, on the small finger side. It is usually treated by surgically removing the extra finger typically, when the child is between 1 and 2 years old. Prognosis after removal of extra digit is good if it occurs in isolation though not devoid of complications like scar...
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