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1.
The Coffin-Lowry syndrome   总被引:4,自引:0,他引:4  
Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.  相似文献   

2.
Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. This pleiotropy has implied genetic heterogeneity and prompted reviews of previously reported cases of Seckel syndrome. As a result, the characteristic diagnostic features of Seckel syndrome have been highly debated. Although deletions in chromosome 2q have been described, to date, no genetic defect has been defined. We report three cases of Seckel-like syndrome in siblings from nonconsanguinous Caucasian parents. In addition to the typical Seckel phenotypic features, all three cases were characterized by severe hydrocephalus. We review the literature and propose that there is a spectrum of Seckel conditions that share some common key features, but also demonstrate a wide range of phenotypic features. Received February 3, 1998; accepted July 6, 1998.  相似文献   

3.
Two cases of Neu-Laxova syndrome are reported. The pathological features are described. There is marked swelling of the palms and soles, which is due to massive fat and myxomatous connective tissue proliferation in addition to edema. Lissencephaly with hypoplasia of cortical descending fibers is observed, along with cerebellar hypoplasia. The occurrence of 2 micro cephalic male and female infants dying shortly after birth in the same sibship with 1 normal baby in between confirms similar findings by others and supports an autosomal-recessive inheritance. The relevance of pathological examination in further delineation of the phenotypic appearance is discussed.  相似文献   

4.
ABSTRACT. The prevalence of Rett's syndrome was studied in a part of southwestern Sweden comprising five counties and the city of Gothenburg. In a population of 315469 children and adolescents, 6-17 years of age, 10 cases were detected, all girls. The corresponding prevalence was 0.65/10000 girls, i.e. about twice that of phenylketonuria (PKU) in the same area. As progressive brain disorders/metabolic diseases together constitute 5-6 % (1.5-2.0/10000 children) of the aetiologies among severely mentally retarded persons of this age group in central Sweden, it can be concluded that within this group Rett's syndrome should be considered as an aetiological factor to think of in females. This syndrome might well be responsible for one-fourth to one-third of such cases among girls.  相似文献   

5.
A case is described with prolinuria and OH-prolinuria associated with congenital renal dysplasia, retinal dysplasia and mental retardation. The mental disturbance showed a peculiar picture of autism. Consanguinity supports the assumption that the disease is caused by a recessive gene. There was an accumulation of nervous diseases in the family. This raises the question whether one recessive gene may condition the individual for psychiatric diseases.  相似文献   

6.
BACKGROUND: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder, including hand stereotypies, hyperventilation and breath holding. No study has tested the specificity of these behavioural features to individuals with RS, compared to individuals with severe to profound mental retardation (SMR). METHOD: A novel checklist of characteristic RS behavioural and emotional features, the Rett Syndrome Behaviour Questionnaire (RSBQ), was developed to test the type and specificity of behavioural features of RS against those found in girls with SMR. RESULTS: After controlling for the effects of RS-related physical disabilities, the RSBQ discriminated between the groups. Some aspects of the behaviours found to be specific to RS are included in the necessary or supportive RS diagnostic criteria, notably hand behaviours and breathing problems. Additional behavioural features were also more frequently reported in the RS than the SMR group, including mood fluctuations and signs of fear/anxiety, inconsolable crying and screaming at night, and repetitive mouth and tongue movements and grimacing. CONCLUSIONS: Full validation of the scale requires confirmation of its discriminatory power and reliability with independent samples of individuals with RS and SMR. Further delineation of the specific profile of behaviours seen in RS may help in identification of the function of the MECP2 gene and in improved differential diagnosis and management of individuals with RS.  相似文献   

7.
ABSTRACT. Two cases of happy puppet or Angelman syndrome are presented. They have the typical clinical features and represent the first Swedish cases. One of the patients is a man of 75 years of age, which shows that this form of severe mental retardation is well compatible with long life. Extended EEG monitoring may identify the typical EEG abnormality when this is difficult to demonstrate in routine EEG records. The typical laughter has no specific correlate in the EEG and thus is probably not an epileptic manifestation. Regional cerebral blood flow studies were normal in the young patient (11 years of age) but in the older patient showed a reduced cerebral circulation, compatible with organic dementia  相似文献   

8.
The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.Abbreviation HC head circumference  相似文献   

9.
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intra-uterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypo-plastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umbilical cord. Abnormal facial features include sloping forehead, hypertelorism, severe ectropion, proptosis, malformed ears, flat nose, and micrognathia. A necropsy study of a male infant with Neu-Laxova syndrome is described. Cleft palate and ambiguous external genitalia were present in addition to anomalies characteristic of Neu-Laxova syndrome. The clinical manifestations are compared with those of the 40 previously reported cases.  相似文献   

10.
Fryns syndrome is a lethal, autosomal recessive syndrome of multiple congenital anomalies described by Fitch et al. in 1978 and Fryns et al. in 1979. As originally described, the major diagnostic criteria included abnormal facies; small thorax with widely spaced, hypoplastic nipples; distal limb and nail hypoplasia; and diaphragmatic hernia with pulmonary hypoplasia. Malformations involving other systems occurred irregularly in published reports. We reviewed 41 published cases of Fryns syndrome and added 4 cases of our own. The major diagnostic criteria described by Fryns were consistent in all cases with the exception of two criteria. Narrow thorax with hypoplastic nipples and gastrointestinal anomalies were present in less than 50% of the cases. Although for 16 of the 41 published cases there was no information on central nervous system findings, 21 of the 29 remaining cases (72%) had CNS malformations. These lesions were absence of corpus callosum, arhinencephaly, and heterotopia of cerebral and cerebellar tissue. Similarly, for 12 of the 41 published cases there was no information on cardiovascular findings but 29 of the 33 remaining cases (88%) had congenital heart disease. These lesions were ventricular septal defects, atrial septal defects, and persistent left superior vena cava. We conclude that central nervous system anomalies and congenital heart disease should be added to the major diagnostic criteria of Fryns syndrome.  相似文献   

11.
ABSTRACT. Two cases of happy puppet or Angelman syndrome are presented. They have the typical clinical features and represent the first Swedish cases. One of the patients is a man of 75 years of age, which shows that this form of severe mental retardation is well compatible with long life. Extended EEG monitoring may identify the typical EEG abnormality when this is difficult to demonstrate in routine EEG records. The typical laughter has no specific correlate in the EEG and thus is probably not an epileptic manifestation. Regional cerebral blood flow studies were normal in the young patient (11 years of age) but in the older patient showed a reduced cerebral circulation, compatible with organic dementia  相似文献   

12.
This paper reports observations on 6 new patients with the Dubowitz syndrome which was first defined by Grosse et al., in 1971 and which is a recessively inherited, pleiotropic malformation syndrome including variable degrees of intrauterine growth retardation and primordial shortness of stature, microcephaly, mental retardation, eczema, and a characteristic appearance, voice and combination of minor anomalies. Data in the present report show that eczema can be absent, and patients can be of normal height, and of normal intelligence in spite of a head circumference which has so far always fallen below the third percentile. So far 11 patients (8 females and 3 males) are known with the Dubowitz syndrome; in one family the parents were first cousins.Paper No. 1617 from the University of Wisconsin Genetics Laboratory.  相似文献   

13.
Data were analysed on 33 children (22 males) with Silver Russell syndrome treated with growth hormone for periods up to 5 years. Baseline data (medians) at commencement of growth hormone (GH) therapy were age 6.7 years, bone age delay 1.7 years, height standard deviation score (SDS)-3.2, weight SDS –3.1, and growth velocity 5.7 cm/ year. All were prepubertal. Median birth weight SDS for gestational age was –3.2. GH was commenced at 14 IU/m2 per week and subsequently adjusted according to response. Growth velocity and growth velocity SDS for chronological age (CA) improved over baseline and gains in height SDS for CA were 1.0, 1.5 and 1.8 SD over 3, 4 and 5 years respectively (P < 0.001). No significant increase in height SDS for bone age was observed. Increased GH doses were required after the 1st year to maintain growth rates. Mean bone age advancement was 3.1 years after 3 years of treatment, and 6.0 years after 5 years treatment. Younger age was a predictor of the growth response over the 1st year. Predictors of response after 3 years were catch-up growth, low weight SDS at birth and low height SDS for CA. Age at onset of puberty was normal, but height at onset of puberty was lower than normal means. Conclusion We have demonstrated significant improvement in growth in Silver Russell syndrome after 3 years of GH therapy, however data on estimated mature height and final height are insufficient to conclude final outcomes. Further follow up is required to assess the long-term benefit. Received: 19 July 1995 Accepted: 4 March 1996  相似文献   

14.
Abstract Twelve autopsy cases (9 males, 3 females) of the prune belly syndrome are presented. Principal anomalies of this syndrome are a prune-like abdominal feature and a giant bladder. Urethral atresia was observed in most but two cases. Imperforate anus and rectovesical fistula were observed in 8 and 7 cases respectively. Associated anomalies were those which may or may not be embryologically related to the principal anomalies.
As regards the pathogenesis, the authors propose that a primary defect may occur during any developmental stage of the somitic mesoderm, genital tubercle and urethra. In conclusion, the prune belly syndrome may be of spectrum anomalies depending on the stage specificity mainly in the abdominal wall and genito-urinary organs.  相似文献   

15.
Prune belly syndrome (PBS), a triad consisting of abdominal musculature hypoplasia, urinary tract malformations, and cryptorchidism, is frequently associated with other congenital malformations. Although it is acknowledged that gastrointestinal (GI) malrotation and mesenteric anomalies are frequent in PBS, other GI anomalies are generally considered to be exceedingly rare. Here we describe 3 autopsy cases with severe malformations of both midgut and hindgut derivatives and review the world literature to evaluate the spectrum of GI malformations associated with this syndrome. The relatively high frequency of distal stenoses and atrcsias suggests that the anomalous mesenteric attachments may predispose to prenatal volvulus and subsequent anatomic bowel obstruction. Postnatal volvulus is also occasionally observed. Infants with PBS also appear to be at a higher risk for persistence of the common fetal cloaca.  相似文献   

16.
ABSTRACT. A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle–niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature.  相似文献   

17.
We report a 3-year-old girl with the cardiofacio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The actiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.  相似文献   

18.
We examined 124 autopsy cases of Down syndrome for the presence of renal and urinary tract abnormalities. The cases were divided into three groups: (I) fetuses of 16-22 weeks gestation (n = 18), (II) stillborns or newborns who died on the first day of life (n = 9), and (III) Down patients 1 day to 25 years of age (n = 97). Kidney weight was reduced by a mean of 14.4% compared with expected values. Renal hypoplasia, defined as kidney weight less than two-thirds expected, was found in 18 cases. Glomerular microcysts were found in 23 of 97 cases in group III. Focal dilatation of tubules was found in 10, simple cysts in 7, and immature glomeruli deep in the renal cortex in 18 cases. Obstructive uropathy occurred in 2 of 18 (11.1%) in group I, 2 of 9 (22.2%) in group II, and 4 of 97 (4.1%) in group III. Obstructive uropathy with bilateral cystic dysplastic kidneys resulted in Potter's sequence. We suggest that obstructive uropathy is associated with Down syndrome. When severe, it results in Potter's sequence and an early perinatal death. A chromosomal analysis is recommended in any case of obstructive uropathy in the fetal or neonatal period.  相似文献   

19.
We describe a boy with the hypertelorism-hypospadias (BBB) syndrome. His mother and his maternal grandmother showed minor manifestations suggestive of the syndrome. The BBB syndrome is a syndrome of multiple congenital anomalies with mental retardation due a segregating mendelian mutation, either X-linked or autosomal. This paper reviews the literature on the subject and emphasizes the problem of identifying females at high risk of transmitting the condition.Supported by Grant 75/0186 from FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo), São Paulo, BrazilSupported by DHEW/PHS Grant GM 20 130 from the National Institute of General Medical Sciences. Paper No. 2055 from the University of Wisconsin Laboratory of Genetics  相似文献   

20.
Three cases of a syndrome featuring massive splenomegaly, gross generalized lymphadenopathy, and moderate hepatomegaly are reported. Spleen weights ranged from 800 to 2400 g. Gradual depletion of lymphoid germinal centers, and prominent infiltration of the splenic and lymph node cords with plasma cells, immunoblasts and actively dividing B cells were the most distinctive histological features. The liver in two cases showed portal infiltrates. A marked hypergammaglobulinemia, a decrease in blood cholesterol level and hematological abnormalities related to hypersplenism were observed. The condition begins early in life and runs a chronic course, of up to 25 years. There was a family history in only one instance. Since there was no generalized immunodeficiency nor local depletion of T cells or dendritic reticulum cells, a failure in the local regulation of the immune response and possible cytokine production is postulated. This condition underlines the pivotal role of the local organization of the germinal centers in cellular cooperation and in the carrying out and regulation of the immune response.  相似文献   

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