Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two patients with a complicated form of trigonocephaly. The first patient has the Opitz-"C"-trigonocephaly syndrome. The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial dysmorphism can be regarded as part of a trigonocephaly "sequence" rather than presenting characteristic features of a syndrome. More specific are the intra-oral anomalies, abnormally modelled ears, cardiac anomalies and neonatal hypotonia. All surviving patients are severely retarded. Since almost all patients are sporadic cases we suggest that the "C"-syndrome is a cytogenetically yet undetectable microdeletion syndrome.
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PMID:Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. 147 56

We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.
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PMID:Optiz trigonocephaly syndrome: report of two cases. 669 65

This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, short limbs, and joint dislocations and/or contractures); visceral defects (congenital heart defects, cryptorchidism, and abnormal lobulations of the lungs and kidneys). Auricular, mandibular, skin, and genital abnormalities also occur. Consistent neurological findings are hypotonia, strabismus, and psychomotor retardation; seizures have been reported. Normal chromosomes, normal parents with multiple affected offspring, equal sex ratio of affected individuals, and consanguineous matings all support autosomal recessive inheritance of the C syndrome. In autopsied cases, there has been a suggestion of defective central nervous system myelination. About 1/2 of the case have died within the first year. All survivors have severe to profound mental retardation except for one child who has moderate retardation.
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PMID:Further delineation of the C (trigonocephaly) syndrome. 725 28

We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
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PMID:"C" trigonocephaly syndrome with diaphragmnatic hernia. 754 53

A boy with trigonocephaly, cleft palate, multiple minor anomalies, flexion deformities of elbows, cryptorchidism, and severe muscular hypotonia had an unbalanced karyotype with duplication of the distal 17q and deletion of the tip of 2p. This was derived from a reciprocal translocation in the father, 46,XY,t(2;17)(p25;q24). The propositus had some findings observed in patients with distal dup(17q), while trigonocephaly not found in these patients may be associated with the terminal deletion of 2p including the locus of SOX11 gene. It is proposed that the major clinical findings of this patient are consistent with the phenotype characteristic of the Opitz "C" trigonocephaly syndrome.
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PMID:Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. 1554 Jan 75