Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young girl 12 old, sent to us for obesity, and coxa-epiphysiolysis showed signs of mental retardation and bilateral thumb ankylosis. The fact that the mother was also affected by both of these signs, led to a more detailed genetic research. The latter revealed that not only the daughter, the mother, but also their own mother and may be, the sister, the grand-mother and the great-aunt of the patient had a retardation, a slight dysmorphia, a type A brachydactylia, signs of obesity and an identical ankylosis of both thumbs. This vertical inheritance, affecting apparently females only, but not associated with a high rate of miscarriage, has, it seems, never been reported. The characteristics of this family are being considered and discussed.
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PMID:[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 663 21

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this "new" type of IUGR remains unclear.
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PMID:Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. 720 Dec 38