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PubMed2005

Major clinical and histopathological characteristics of canine X-linked muscular dystrophy in Japan, CXMDJ.

Canine X-linked muscular dystrophy (CXMD), which was found in a colony of golden retriever, is caused by a mutation in the dystrophin gene and it is a useful model of Duchenne muscular dystrophy (DMD). To investigate the pathogenesis and to develop therapy of DMD, we have established a beagle-based CXMD colony in Japan (CXMDJ) and examined their phenotypes. The mortality by 3 days of age in the third generation (G3) of CXMDJ dogs, 32.3%, was considerably higher than that in normal G3 littermates, 13.3%. Serum creatine kinase (CK) levels of G3 CXMDJ were significantly higher than that of normal male dogs with two peaks: at shortly after birth and around 2 months of age. Diaphragm muscle involvement occurred shortly after birth and was more severe than that of limb muscles. Stress during whelping might be associated with the neonatal death and respiratory muscle involvement. Gait disturbance was also noticed after 2 months of age. The involvement of limb and temporal muscles was observed from 2 months of age, which corresponded with the second peak of serum CK. Macroglossia, dysphagia, drooling and jaw joint contracture were overt from 4 months of age. We noticed severe macroglossia and hypertrophy of the sublingual muscles at the age of 12 months, and these were important features of this model, because dysphagia is one of major symptoms in older DMD patients. Overall, the phenotypes of CXMDJ were roughly identical to those of CXMD dogs in the literature. Beagle-based CXMDJ is smaller and easier to handle than golden retriever, therefore they are a useful model for DMD.

Animals↗
PubMed1990

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome.

We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one. The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.

Beckwith-Wiedemann Syndrome↗
PubMed1983

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.

Acidosis↗
PubMed1990

Study of the mechanisms of BUdR-induced cleft palate in the mouse.

This study was designed to examine the pathogenesis of bromodeoxyuridine (BUdR)-induced clefts of the secondary palate in the LACA mouse. Intraperitoneal injections of BUdR (500 mg/kg body weight) were given at various days and combinations of days between E11 and E15 (plug day = E1). Treatment on E11 alone resulted in approximately 22% of fetuses with cleft palate when the latter were examined either on E16 or E19. Treatment on E11 and E12 approximately doubled the above incidence, and treatment on E11, 12 and 13 raised it to 100%. However, no treatment, either single or multiple, caused cleft palate when given later than E11. This suggests that the cellular changes caused by BUdR that lead to cleft palate must be inflicted during E11 and that such damage can be repaired in about 80% of embryos. All fetuses with cleft palate had severe micrognathia on E16 and E19, which skeletal staining showed to be the result of a bilateral sigmoid buckling of Meckel's cartilage. Studies with the scanning electron microscope (SEM) on E15, 16, and 19 suggested strongly that the micrognathia caused a relative macroglossia and hence mechanical interference with palatal shelf reorientation. Histological studies with the light microscope showed that BUdR caused cellular necrosis in many embryonic tissues during the 24 hours after its administration. This necrosis was strikingly more severe in the mandibular rudiment of the first branchial arch than in the maxillary. The latter observation accords well with findings by other workers that cell proliferation is more rapid in the mandibular blastema than in the maxillary. Transmission electron microscope (TEM) studies of the buckled region of Meckel's cartilage failed to reveal any ultrastructural differences from control Meckel's cartilage. Hence BUdR had only interfered with the shape of the cartilage but not with its histiogenesis. We conclude that BUdR, by its cytotoxicity or antidifferentiative effects, interfered with the formation of the anterior end of Meckel's cartilage, initiating a chain of events leading through micrognathia and relative macroglossia to failure of palatal shelf reorientation and cleft palate.

Animals↗
PubMed1989

[Early orthodontic treatment measures in infants with the EMG syndrome].

In 1963 Beckwith and Wiedemann reported a syndrome, which was characterized by umbilical hernia, macroglossia and somatic gigantism. In the literature, early intervention by tongue reduction is recommended in order to prevent both mandibular prognathism and open bite. In this paper seven cases were presented showing that early functional treatment of the stomatognatic system leads to pleasing results, both functionally and aesthetically. Therefore it is suggested, that functional treatment should replace surgical management of macroglossia in the Beckwith-Wiedemann-syndrome.

Beckwith-Wiedemann Syndrome↗
PubMed2005

Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives.

Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased risk for Wilms tumor, adrenal cortical carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma, among others. Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy. The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ1OT1, and CDKN1C). Topics discussed in this article are organized as a series of perspectives: general, historical, epidemiologic, clinical, pathologic, genetic/molecular, diagnostic, and differential diagnostic.

Beckwith-Wiedemann Syndrome↗
PubMed1999

Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a clinically variable disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, visceromegaly, and an increased susceptibility to childhood tumors. The disease has been linked to a large cluster of imprinted genes at human chromosome 11p15.5. A subset of BWS patients has been identified with loss-of-function mutations in p57(KIP2), a maternally expressed gene encoding a G(1) cyclin-dependent kinase inhibitor. Some patients display loss of imprinting of IGF2, a fetal-specific growth factor that is paternally expressed. To understand how the same disease can result from misregulation of two linked, but unrelated, genes, we generated a mouse model for BWS that both harbors a null mutation in p57(Kip2) and displays loss of Igf2 imprinting. These mice display many of the characteristics of BWS, including placentomegaly and dysplasia, kidney dysplasia, macroglossia, cleft palate, omphalocele, and polydactyly. Some, but not all, of the phenotypes are shown to be Igf2 dependent. In two affected tissues, the two imprinted genes appear to act in an antagonistic manner, a finding that may help explain how BWS can arise from mutations in either gene.

Animals↗
PubMed1999

US assessment of the fetal head and neck: a state-of-the-art pictorial review.

When attention is paid to the details of normal and abnormal fetal head and neck anatomy, abnormalities that normally would be missed at prenatal ultrasonography can routinely be diagnosed. Five basic views are used to assess the fetal head and neck: a transverse view of the head in the plane of the cavum septum pellucidum and cerebellum, a sagittal and a coronal view of the face to visualize the nose and lips, a sagittal view of the cervical spine, and a transverse view of the orbits to measure the biorbital and interorbital distances. Thickened nuchal fold, a common sign of Down syndrome, can be assessed with transverse images of the head. Transverse views are also useful to demonstrate cystic hygroma, occipital meningocele, and encephalocele, all of which can be associated with other severe anomalies. Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities. Visualization of these entities should prompt further search and amniocentesis. Lymphangioma of the tongue appears similar to macroglossia but is an isolated anomaly. Transverse views through the orbits are helpful for demonstrating orbital teratoma, orbital encephalocele, and hypo- and hypertelorism (the latter two being associated with other abnormalities). Sagittal views of the neck can demonstrate cystic hygroma, teratoma, and an enlarged thyroid.

Congenital Abnormalities↗
PubMedDate not supplied

Stenotic nasopharyngeal dysgenesis in the dachshund: seven cases (2002-2004).

Medical records of seven dachshunds with congenital nasopharyngeal stenosis from abnormally thickened palatopharyngeal muscles were reviewed. The intrapharyngeal ostium in all cases consisted of only a narrow slit. Dogs were presented with various clinical signs--the most common being dyspnea, expiratory cheek puff, salivation, pharyngeal dysphagia, oral dysphagia (to a lesser extent), and macroglossia. Diagnostic procedures included direct pharyngeal inspection, pharyngeal and thoracic radiography, fluoroscopy, lingual ultrasonography, biopsies in two dogs, and a postmortem examination in one dog. Diagnoses were readily made with radiographs and visual examinations. Macroglossia was confirmed with transcutaneous ultrasonography or a transmandibular finger test.

Animals↗
PubMed1999

[Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain].

OBJECTIVE: Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 18 cases with Wiedemann-Beckwith syndrome identified in the consecutive series of 25,967 malformed liveborn infants detected among 1,431,368 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Wiedemann-Beckwith syndrome in Spain is 0.13 per 10,000 liveborn infants. These infants have a high birth weight for their gestational age and are born of shorter pregnancies (prematurity 33.3%). The clinical manifestations of our cases are concordant with the variable expression of the syndrome; the most frequent features were macroglossia (100%), omphalocele or umbilical hernia (77.8%) and high birth weight (64.7%). Other findings were polyhydramnios and placentomegaly. All of the cases were sporadic.

Beckwith-Wiedemann Syndrome↗
PubMed2002

[Transient neonatal diabetes associated with uniparental isodisomy of chromosome 6].

A female neonate was born after a 37.4-week pregnancy to a healthy primipara. There was a family history of diabetes on the father's side. The neonate's birth weight was 1,955 g and she was 43 cm long. Physical examination showed bilateral palpebral edema, macroglossia, umbilical hernia and abdominal distension. At 29 hours of life she presented hyperglycemia without acidosis or ketosis. Insulin treatment was started and maintained intermittently until 38 days of life. The patient presented anemia from the second day of life, which required iron therapy and blood transfusion one month after birth. The karyotype was 46, XX with paternal uniparental isodisomy of chromosome 6. Paternal uniparental isodisomy of chromosome 6 has been described as the pathogenic mechanism of transient neonatal diabetes, which provides evidence for an imprinted gene exclusively of paternal expression. In paternal isodisomy (as in regional duplications) there is overexpression due to the existence of two functional copies of the gene, which is responsible for transient neonatal diabetes mellitus. Transient neonatal diabetes associated with macroglossia, umbilical hernia and anemia has been described in only a few cases.

Chromosomes, Human, Pair 6↗
PubMed2001

[The relationship between tongue and stability of complete mandibular denture].

OBJECTIVE: To explore the relationship between contour and functional movement of tongue and stability of complete mandibular denture. METHODS: 157 patients with middle to severe alveolar atrophy restored with complete mandibular denture were retrospectively reviewed. Of the patients, 139 cases had normal tongue, 11 had hypertrophic tongue, 2 had macroglossia and 5 had retrusive tongue. An appropriate impression position of tongue was obtained with limitation of lingual movement by individual tray with tongue orientation bar. In measurement of the vertical distance, the anterior wax rim did not contact with a small space. The mandible was used as the standard plane. The mandibular denture was first arranged. The occlusal plane of the mandible was 2-3mm inferior to the lingual margin at rest. RESULTS: The patients were reexamined 1 month, 6 months and 1 year after rehabilitation with denture. 148 patients used the denture with satisfactory results. The tongue was mobile freely in accordance with the denture. Unsatisfactory results were present in 3 patients with hypertrophic tongue, 2 patients with macroglossia, 2 patients with retrusive tongue and 2 patients with severe mandibular alveolar atrophy. CONCLUSION: The anatomic morphology and functional movement of tongue play an important role in the stability of the mandibular complete denture.

English Abstract↗
PubMed2005

Prevalence of tongue lesions among Turkish schoolchildren.

OBJECTIVES: To collect data on the prevalence of tongue lesions of Turkish schoolchildren in 3 different population samples in Ankara, and to analyze the relationship between tongue lesions and gender, oral hygiene, and income levels. METHODS: Nine hundred and six schoolchildren aged 6-12 participated in this study between March 2004 and July 2004 in Ankara, Turkey. Of the 906 schoolchildren, 442 were girls and 464 were boys from 3 primary schools. We examined all the children for the presence of the following tongue lesions: 1) ankyloglossia, 2) bifid tongue, 3) fissured tongue, 4) geographic tongue, 5) median rhomboid glossitis, 6) lingual thyroid nodule, 7) atrophic tongue, 8) hairy tongue, 9) crenation tongue, 10) furred tongue, 11) macroglossia, 12) microglossia, and 13) lingual or sublingual varicosities. RESULTS: Of the 906 subjects, we detected 45 subjects with tongue lesions with a prevalence of 4.95%. We found lesions more frequently in boys (6%) than in girls (4.5%). However, these results were statistically insignificant. Oral lesions commonly found were geographic tongue (1.8%), ankyloglossia (1.3%), fissured tongue (0.9%), bifid tongue (0.4%), hairy tongue (0.2%) and macroglossia (0.2%), lingual thyroid nodule (0.1%). We did not find any of the following lesions: median rhomboid glossitis, atrophic tongue, crenation tongue, furred tongue, microglossia, lingual, or sublingual varicosities. CONCLUSION: The tongue has a special importance due to its localization. It can readily affect a patient's social life because of lesions and various symptoms. The localization of tongue may also play important role in diagnosis for systematic, hormonal, and allergic disorders.

Adolescent↗
PubMed1991

[Two brother cases of late-onset familial amyloidotic polyneuropathy in Kyoto].

Measurement of variant Met30 transthyretin is diagnostic for a patients with familial amyloidotic polyneuropathy (FAP) type I. The elder brother first noticed numbness of the feet at 64 years of age, and developed weakness of the legs. A few years later, he noticed numbness of the hands, and he was admitted to the hospital at 67 years of age. He was emaciated and had hoarseness and macroglossia. He had moderate muscle atrophy and weakness of all extremities with distal predominance. Deep tendon reflexes were hypoactive in the upper limbs and absent in the lower limbs. There was marked sensory loss of pain and temperature in all 4 limbs distally, and position sense was also impaired. He had mild orthostatic hypotension, severe cardiomegaly and arrhythmia. The younger brother noticed cold sensation of the feet and sexual impotence at 59 years of age. Two years later, he had numbness of the feet and developed weakness of the legs. At 65 years of age, he was admitted to the hospital because of the micturition syncope. He was emaciated and had macroglossia. He had moderate muscle atrophy and weakness of all extremities with distal predominance. Deep tendon reflexes were absent. There was marked sensory loss in the extremities which was predominant in pain and temperature. He had severe orthostatic hypotension (112/70 mmHg in supine position, 50/30 mmHg on standing). Plasma NE value was low and showed poor response to standing. He had neither cardiomegaly nor arrhythmia. Their parents were supposed to have no neurological symptom and were not related with any other Japanese foci of FAP.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed2006

[Prenatal diagnosis of Beckwith-Wiedemann syndrome in third trimester].

AIM OF THE STUDY: The aim of the study was to analyze prenatally recognized cases of Beckwith-Wiedemann syndrome (BWS) and further follow-up. We report the most common features which can help in prenatal diagnosing of that condition. MATERIAL AND METHODS: 3 fetuses diagnosed with BWS, referred for echocardiographic evaluation had been examined in referral centre from 2003-2005. RESULTS: Mean gestational age at the diagnosis was 31 week. During ultrasound evaluation characteristic features were recognized: macrosomy, macroglossia, nephromegaly in all cases, polyhydramnion was associated in 2 cases. No congenital heart defect and any functional changes were found during ECHO. In one case prenatal karyotyping was performed and revealed normal karyotype. Postnatal karyotyping in remain two cases was normal in one and abnormal in second case (Moz 46XX (13/46XX-18, +MAR5). CONCLUSIONS: 1. Prenatal diagnosis of Beckwith-Wiedemann syndrome can be obtained based on characteristic ultrasound features in the third trimester. 2. Most common features of BWS diagnosed in prenatal ultrasound included: macrosomy, macroglossia, visceromegaly and polyhydramnios. 3. In utero diagnosis is important for further mode and time of delivery planning, also neonates' clinical condition directly after delivery and long-term postnatal prognosis. 4. Karyotyping is recommened in all cases of BWS.

Adult↗
PubMed1993

Beckwith-Wiedemann syndrome in Bulawayo, Zimbabwe.

Beckwith-Wiedemann syndrome is an easily recognised syndrome in its complete form with macroglossia and exomphalos. The three cases reported here are an attempt to increase awareness of the existence of this syndrome which has serious consequences. All our patients had the combination of macroglossia and exomphalos, but none developed symptomatic hypoglycaemia. Growth patterns were distinctly different in all cases. One patient was the first of a pair of twins. The syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and variable expressivity. Early diagnosis should alert the clinician to the risk of eventual neonatal hypoglycaemia and long term follow up is warranted because of a possible development of malignancies in childhood. The reason for the very low incidence of the syndrome in Bulawayo remains unexplained.

Beckwith-Wiedemann Syndrome↗
PubMed1977

Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel.

We describe a family in which 3 sisters gave birth to 8 infants with the Wiedemann-Beckwith syndrome. The clinical manifestations in all the affected individuals included macroglossia, macrosomia and omphalocele, while their mothers all were entirely normal. Pedigree analysis suggests that familial occurrence of the Wiedemann-Beckwith syndrome may be due to delayed mutation.

Child, Preschool↗