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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Triploid infants are born prematurely and usually live less than one day. The triploidy syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.
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PMID:The phenotype of human triploidy. 447 Aug 97

Triploidy is a common chromosomal aberration seen in 1% of clinically recognized human pregnancies. Development beyond 10 weeks is unusual. Occasionally fetuses survive past 20 weeks; however, they usually present as a stillbirth with only a few managing some hours of independent life. The clinical features of these infants cover a wide spectrum, but a consistent feature is organ hypoplasia and hypotonia. We observed marked enlargement of somatostatin-producing cells (D cells) in the pancreata of triploid fetuses. Somatostatin-producing cells are widely distributed in normal mammals although concentrated in the pancreas and gastrointestinal tract, generally being antiproliferative and having an inhibitory effect on various functions. The control of fetal growth is not well understood. There is, however, some evidence that somatostatin does play a significant part and our consistent observation of cytomegaly of the pancreatic D cells in growth-retarded triploid fetuses provides more support for this contention.
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PMID:Cytomegaly of pancreatic D cells in triploidy. 956 82

Wiedemann-Rautenstrauch syndrome is a rare disorder with a progressive course and early lethality. Severe mental and growth retardation, muscle hypotonia, a progeroid face, wrinkled skin, relative macrocephaly with late closure of the anterior fontanel, arachnodactyly and congenital heart defects are also typical. We report on a female infant with all the characteristic features of this syndrome after birth. Chromosomal studies on peripheral leukocytes showed a normal karyotype. In view of an abnormal lipid distribution and lipodystrophy, metabolic studies for congenital disorders of glycosylation have been performed with normal results. At the age of 2 years 6 months the progeroid signs were no longer present, and the patient had a striking improvement in her psychomotor development. As there are overlapping features in Wiedemann-Rautenstrauch syndrome and in mosaic polyploidy, including psychomotor retardation, reduced peripheral muscle bulk, arachnodactyly and lipodystrophy, chromosome analysis was performed in the fibroblast culture of our patient. A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy.
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PMID:Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. 1631 4