Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 16-year-old boy with trisomy 8 mosaicism is presented. Increased birth weight, delayed psychomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everted lower lip, low set dysmorphic ears, strabismus, slender trunk, narrow pelvis, osseous and joint anomalies, clinodactyly, deep skin furrows on the soles, and agenesis of the corpus callosum. The trisomic cell line was observed throughout the follow-up examinations from the fibroblast cultures between 1962 and 1973, but has disappeared from the lymphocyte culture. The clinical picture of this case is compared with the leading clinical signs and symptoms of the 25 cases with confirmed trisomy 8 so far published. A scheme is proposed in order to keep in mind the clinical picture suggesting trisomy 8.
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PMID:Trisomy 8 mosaicism. A case report and a proposed list of the clinical features. 99 75

Chromosome 8 is the largest autosome thus far found to be trisomic among liveborn infants. Trisomy 8 "mosaicism" syndrome (T8mS) consists primarily of individuals whose chromosome complement is mosaic for chromosome 8 (T8m), i.e., patients with a chromosomally normal cell line in addition to the trisomic 8 cell line, and a few known individuals with full trisomy 8 (T8), i.e., each cell observed contains an extra chromosome 8. Reported cases of both types share a number of common features and thus have helped to delineate a new syndrome. Common features of T8mS include mild-to-moderate mental retardation, strabismus, osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hydronephrosis, cryptorchidism, and characteristic dermatoglyphics. Since chromosomal mosaicism is often present in this syndrome it is not surprising that considerable phenotypic variation exists. The present report of one of the youngest individuals yet described with T8m adds two more physical findings (dense corneal clouding and a heretofore undescribed clavicular deformity) to the constellation of abnormalities associated with T8mS. On the basis of the phenotypic and cytogenetic findings in this and 17 similar patients previously reported it is proposed that T8mS is a distinct clinical entity.
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PMID:Trisomy 8 mosaicism syndrome. 119 33

The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pigmented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.
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PMID:Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood. 124 72

Trisomy 8 mosaicism can present with a varied clinical picture. A significant number of cases have ocular manifestations. The most commonly reported in the literature have been corneal abnormalities and strabismus. We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously unreported in the literature. The patient who was known to have trisomy 8 mosaic syndrome was referred with concerns about his visual abilities. He had a characteristic facial dysmorphism and other systemic features associated with this condition. Ophthalmic features included bilateral Duane's syndrome, bilateral myopic astigmatism, congenital pendular nystagmus, and macula hypoplasia. Electrodiagnostic tests confirmed extensive abnormality of cone function in both eyes. This case is discussed in relation to a review of the literature.
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PMID:Ophthalmic manifestations of trisomy 8 mosaic syndrome. 969 89

We described trisomy 8 mosaicism in a 6-month-old boy with left corneal leukoma, strabismus, posterior urethral valve, tibial bowing and congenital pseudarthrosis of the tibia (CPT) on graphic of left tibia. The patient also had some minor anomalies such as short philtrum, full everted lower lip, microretrognathia, flexion contracture on his left thumb, deep palmar and plantar creases and three cafe-au-lait macules (CALM) larger than 1 cm on the abdomen. Peripheral blood karyotype analysis of the patient showed 46,XY(10%)/47,XY,+8 (90%)). Mosaic trisomy 8 is a rare syndrome characterized by renal, cardiac, ophthalmologic anomalies, dysmorphic facial features and some skeletal manifestations. When re-evaluated at 2 years of age, his gross motor development was delayed and he also had 12 CALM larger than 1 cm, hence the patient fulfilled NIH diagnostic criteria for Neurofibromatosis type 1 (NF 1) based on the CALM and CPT. A truncating mutation was found through comprehensive NF1 mutation analysis, i.e., c.1019_1020delCT (p.Ser340CysfsX12). Here we report a patient with both mosaic trisomy 8 and NF1, which was not described previously.
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PMID:Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient. 2096 22