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The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies. Intelligence seems normal. Inheritance is probably autosomal recessive, with possible expression of the mutant gene in the heterozygote. Three sibs with the 3-M syndrome are reported, together with an extensive review of the pertinent literature. 相似文献
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M. Colleen van Doornik M.D. Raoul C. M. Hennekam M.D. Ph.D. 《Developmental medicine and child neurology》1992,34(5):454-458
The authors report a girl with left-sided hemiparesis and unilateral hydranencephaly of the opposite side. Her psychomotor development has been far better than expected--she is only mildly delayed. Hemihydranencephaly is a rare anomaly: only five other cases are reported in the literature, three of whom were also mildly delayed. The fourth patient had multiple congenital defects combined with the hemihydranencephaly and was severely retarded, and no data on the fifth patient were provided. It may be that the prognosis for hemihydranencephaly is better than for most other destructive encephalopathies, which generally carry a poor prognosis for psychomotor development. 相似文献
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Intestinal schistosomiasis japonica: CT-pathologic correlation 总被引:1,自引:0,他引:1
Lee RC; Chiang JH; Chou YH; Rubesin SE; Wu HP; Jeng WC; Hsu CC; Tiu CM; Chang T 《Radiology》1994,193(2):539
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Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. 总被引:2,自引:1,他引:1
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C J van Asperen W C Overweg-Plandsoen M H Cnossen D A van Tijn R C Hennekam 《Journal of medical genetics》1998,35(4):323-327
The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1 gene. The other symptoms in the two cases were similar to the features reported in Weaver syndrome. Although the combination of NF1 and an overgrowth syndrome resembling Weaver syndrome in this family may be fortuitous, we favour the hypothesis that the deletion of the entire gene has caused this combined phenotype. Possible pathogenetic mechanisms are discussed. The observation suggests a relation between NF1 with an extraordinarily large gene deletion and a Weaver(-like) syndrome. This warrants investigation for deletions in the 17q11.2 region in Weaver(-like) syndrome patients. 相似文献
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Oostra RJ van der Wolk S Maas M Hennekam RC 《American journal of medical genetics. Part A》2005,(4):327-342
The Museum Vrolik collection of anatomical specimens in Amsterdam, The Netherlands, comprises over 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, we rediagnosed a subset of the collection comprising dried infantile, juvenile, and adult human skulls with congenital and acquired conditions. On external examination and additional radiography, we found 58 skulls with craniosynostosis (CS) involving one or more sutures and 40 skulls with a presumed suture related condition. Most of these were part of the material collected and described by Louis Bolk (1866-1930). Analysis of his observations suggests that skull deformation because of premature suture closure depends not only on the identity of the sutures involved but also on the timing and progression of their closure and the extent of their involvement. Moreover, premature closure of the sagittal suture after 3-6 years of age appeared to be much more common than expected because it is not accompanied by skull deformation. Many of the skulls with single-suture CS were microcephalic, which may be the cause of the premature synostosis. By contrast, microcephaly may be a resulting phenomenon in multi-suture CS. We noticed that the quotient between height of the cranial vault (vertex-porion distance) and head circumference, multiplied by 100, was 26 or higher only in those CS cases with multi-suture involvement. We therefore consider this parameter, which we named "acrocephalic index", to be an indicator of multi-suture involvement in individual CS cases. In two adult skulls, the skull had a quadrangular shape, which we assumed to be correlated to the presence of an unusually interdigitated open metopic suture. We propose to name this anomaly: tetragonocephaly. Another presumed suture-related condition, bathrocephaly, was found concomitantly with basilar invagination in several cases. We hypothesize that the chronically raised intracranial pressure in these cases caused the still open lambdoidal sutures to distend and the occipital bone to protrude. 相似文献
10.
Laura A Hawryluck William RC Harvey Louise Lemieux-Charles Peter A Singer 《BMC medical ethics》2002,3(1):3-9