Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
نویسندگان
چکیده
منابع مشابه
Congenital microcephaly.
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a consolidation and emergence of certain themes concerning underlying pathomechanisms. These include abnormal mitotic microtubule spindle structure, numeric...
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We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewi...
متن کاملMicrocephaly
interesting questions related to a hot topic will eventually be revealed by somebody. Therefore, I try to study what other people do not. One thing I try to keep in mind is whether my questions are of general interest. My major interest lies in the underlying mechanism of seasonality. Because research on this topic requires a long time, few people want to work on this topic. I used quail as a m...
متن کاملMicrocephaly
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life. Genetic abnormalities, syndromes, metabolic disorders, teratogens, infections, prenatal, perinatal, and postnatal injuries can cause both congenital and postnatal microcephaly. Evalu...
متن کاملMicrocephaly-cardiomyopathy: a new autosomal recessive phenotype?
A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2002
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.10529