منابع مشابه
Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters.
Stimmler, L., Jensen, N., and Toseland, P. (1970). Archives of Disease in Childhood, 45, 682. Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes meilitus in two sisters. Two sisters, both microcephalic at birth and of low birthweight, are described. They are both severely mentally retarded and dwarfed, and have developed diabetes mellitus. Their teeth show ename...
متن کاملSplenomegaly, hypersplenism, and hereditary disorders with splenomegaly
Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were ...
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 کاملDiastrophic dwarfism.
Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate. Radiographic findings include flaring of the metaphyses of tubular bon...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1952
ISSN: 0035-9157
DOI: 10.1177/003591575204500904