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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Report of a girl, aged twenty-one months with the typical symptoms of the Seckel Syndrom: Low initial weight in spite of normal resp. prolonged pregnancy, characteristical "bird headed face", mikrocephaly, shortening, general dystrophy, stato-motorial and mental retardation.
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PMID:[Seckel syndrom (author's transl)]. 98 9

A 13-year-old boy presented with Seckel's syndrome, still called bird's head nanism, characterized by: --nanism, mental retardation, microcephaly, and protrusio of the middle third of the face. The typical facial appearance enabled a detailed study to be conducted of both clinical and radiological features, including, particularly, an architectural and structural analysis of profile teleradiographic images, providing objective data on the craniofacial deformities. Skeletal and systemic anomalies are also described, together with elements documented in the literature but absent in the present case. The etiology of this syndrome remains unknown.
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PMID:[Seckel's syndrome (or bird's head dwarfism). Apropos of a case]. 658 Jul 9

The clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts. Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and "ivory epiphyses" in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X-linked inheritance cannot be excluded.
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PMID:Identical male twins and brother with Cockayne syndrome. 689 Mar 11

The true entity of Seckel's (bird headed dwarfism) has been hardly questioned due to the variety of malformations reported in these patients. However all cases reported have in common: dwarfism, bird head, microcephaly, mental retardation and malformations of different kinds. All these features must be present for the correct diagnosis. In two cases of Seckel's syndrome, full diagnostic features and post-mortem findings are reported. Special emphasis is made on the neuropathologic lesions. For the first time in the literature, changes in the epiphyseal tibial cartilage (with histochemical and EM studies) are described and correlated to dwarfism. Based on morphological data the authors propose Seckel syndrome as a condrodysplasia.
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PMID:[Seckel's syndrome: a form of chondrodysplasia? (author's transl)]. 711 18

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

The paper report a case of Seckel's syndrome in a girl aged 7 years and 2 months who was referred to the authors attention due to abdominal colic. Low birth weight together with a significant delay in weight and stature increase, microcephalia with the typical bird head and considerable mental retardation were sufficient to diagnose the syndrome. Interesting analogies were observed with another case of a patient with Seckel's syndrome born to an epileptic mother receiving antiepileptic treatment which was suspended during the second month of gestation. In the case presented here, no drugs were taken during pregnancy although the mother had received antiepilepsy treatment for years.
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PMID:[Seckel syndrome. Report of a case]. 779 18

Seckel's Syndrome is a rare (< 1:10,000) malformation, presumably inherited as an autosomal-recessive trait. It is characterized by failure to thrive, mental retardation, bird-like malformation of the face and further abnormalities. Cardiac anomalies have not been described so far. We report two patients with cardiac malformations, a complex defect and a patient ductus arteriosus.
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PMID:[Cardiac symptoms in 2 patients with Seckel syndrome]. 841 37

Seckel syndrome is a clinical picture which associates four main features: intrauterine growth retardation, microcephaly often due to craniosynostosis, orofacial dysmorphology with bird headed appearance and variable mental retardation which is present after several months. Malformations of the central nervous system, limbs, and hair, may also be observed. On the basis of 78 cases reported in the literature, the authors discuss the validity of the morphological features of the syndrome. It is likely that the variability in the expressivity of each symptom explains its heterogeneity. According to the radiological abnormalities, three different forms of the syndrome have been described. Seckel syndrome is a genetic disorder with autosomal recessive inheritance. Its ethiopatogeny remains unclear. Hopefully linkage studies will allow to map the gene in order to determine the underlying abnormal protein.
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PMID:[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties]. 874 29

Seckel syndrome is a rare autosomal recessive disorder. The classical presentation includes pre- and postnatal growth deficiency, mental retardation, and characteristic facial appearance. There have been several reports of associated hematological abnormalities and chromosomal breakage, findings suggestive of Fanconi anemia (FA). We tested for these findings in two Arabic patients with this syndrome. We compared the growth profile of lymphoblastoid cells from our patients and their parents with the FA group A cell line HSC72 in the presence and absence of mitomycin C (MMC). By Western analysis, we also determined the expression of FAA and FAC, two FA disease gene products that together account for approximately 80% of FA. Unlike HSC72 cells, cells from the patients were resistant to MMC, and both FAA and FAC proteins were expressed at similar levels in all cell lines. There is an increasing recognition of clinical variability and perhaps genetic heterogeneity in Seckel syndrome. Our results demonstrate that cross-link sensitivity comparable to FA is not a uniform finding in patients with Seckel syndrome.
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PMID:Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. 1023 49

Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development described, as documented by magnetic resonance imaging (MRI). Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria). We hypothesize that the different types of clinical expression of our patients could be explained by different malformation of cortical development types. We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case.
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PMID:Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature. 1139 28


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