Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Macroglossia”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 523 records · Page 29Linked to original sources
PubMed1994

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. The major features are anterior abdominal wall defects, macroglossia, and gigantism and less commonly neonatal hypoglycaemia, organomegaly, congenital renal anomalies, hemihypertrophy and embryonal tumours occur. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytogenetic abnormalities involving chromosome 11p15. Genomic imprinting effects have been implicated in familial and non-familial BWS, and uniparental disomy (UPD) for chromosome 11 has been reported in sporadic cases. We investigated the incidence, pathogenesis, and clinical associations of UPD in 49 patients with non-familial BWS and a normal karyotype. UPD for chromosome 11p15 was detected in nine of 32 (28%) informative patients. A further two patients appeared to be disomic at the WT1 locus in chromosome 11p13, but were uninformative at chromosome 11p15.5 loci tested. In all cases with UPD the affected person was mosaic for a paternal isodisomy and a normal cell line indicating that UPD had arisen as a postzygotic event. Compared to cases in which paternal isodisomy for chromosomes 11p15.5 had been excluded (n = 23), BWS patients with UPD was more likely to have hemihypertrophy (6/9 versus 1/23, p < 0.001) and less likely to have exomphalos (0/9 versus 13/23, p < 0.01), but there were no significant differences between disomic and non-disomic cases in the incidence of hypoglycaemia, nephromegaly, neoplasia, and developmental delay. The detection of UPD in BWS patients allows accurate genetic counselling to be provided and provides an insight into the molecular pathogenesis of BWS.

Adolescent↗
PubMed1997

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

We present a three generation family in which a father and son have a balanced chromosome translocation between the short arms of chromosomes 5 and 11 (karyotype 46,XY,t(5;11)(p15.3;p15.3)). Two family members have inherited the unbalanced products of this translocation and are trisomic for chromosome 11p15.3-->pter and monosomic for chromosome 5p15.3-->pter (karyotype 46,XY,der(5)t(5;11)(p15.3;p15.3)pat). Paternally derived duplications of 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for 11p15.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of BWS patients who have a paternally derived duplication of 11p15.5 and provide evidence for a distinct pattern of dysmorphic features in those with this chromosome duplication. Interestingly, our family is the fifth unrelated family to be reported with a balanced reciprocal translocation between the short arms of chromosomes 5 and 11. The apparently non-random nature of this particular chromosome translocation is suggestive of sequence homology between the two chromosome regions involved in the translocation.

Adolescent↗
PubMed1992

Amyloid myopathy presenting with respiratory failure.

Amyloidosis is a rare cause of myopathy. Its prominent or presenting feature may be respiratory failure. Physiological measurement of transdiaphragmatic pressure and biopsy specimens of muscle show the pathological mechanism to be diaphragm weakness due to amyloid infiltration of the diaphragm rather than parenchymal lung involvement. Thus amyloid myopathy even without the typical macroglossia and muscle pseudohypertrophy should be considered as one of the neurological causes of respiratory failure.

Aged↗
PubMed2006

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.

Adolescent↗
PubMedDate not supplied

Can we suspect fetal down syndrome by heart evaluation during the second half of pregnancy?

UNLABELLED: Thirty fetuses with Down syndrome, who had detailed fetal echocardiography and sonography at the tertiary center with videotape recordings, were retrospective analyzed by one observer with a specially prepared flow sheet. The mean gestational age of the fetuses at the time of the study was 31 +/- 5.6 (minimum 21, maximum 39) weeks. The 'main' fetal abnormalities were congenital heart defect (CHD): in 13 cases (43.3%) an abnormal 4-chamber view was recorded, including 6 cases (20%) of isolated CHD and 7 (23.3%) of coexisting CHD + extracardiac malformation. Of the 13 cases of CHD, there were 12 cases of atrio-ventricular canal and 1 case of ventricular septal defect. Normal heart anatomy was recorded in 17 cases (56.7%), including 2 with tricuspid value regurgitation. From the videotape recordings also some 'minor' abnormalities were noticed in a few cases such as: femur length shortening; sandal gap; pericardial effusion; macroglossia; echogenic bowel; absent diastolic flow in the umbilical artery, and others. The prevalence of CHD in the study group was similar to the prevalence of CHD in the comparison group of 20 newborns with Down syndrome, born during the same period of time at the same institution, who had not had prenatal scanning at all (chi2, p > 0.05). CONCLUSIONS: (1) the main 'major' abnormality which might be detected in a fetus with Down syndrome after 20 weeks of pregnancy is CHD, which was presented in 43.3% of this series; (2) the presence of any extracardiac malformation should prompt the sonographer for detailed heart evaluation, and (3) fetal echocardiography may increase the accuracy of 'genetic sonogram' in Down syndrome.

Adult↗
PubMed1999

Hypothyroid myopathy with unusually high serum creatine kinase values.

Depending on the degree of hormone deficiency, skeletal muscle involvement may occur in hypothyroidism. Usually, hypothyroid myopathy is associated with creatine kinase values <5,000 U/l. We report a 54-year-old man suffering from increasing fatigability, hoarseness, gait disturbances and a creatine kinase of 9,000 (normal: <80 U/l). He presented with bradyphrenia, macroglossia, dysarthria, myxedema, monoparesis, reduced deep tendon reflexes and stocking-type sensory disturbances. Free triiodthyronine was 0.25 pg/ml (normal: 0.6-1.9 pg/ml), free thyroxine <0.1 ng/dl (normal: 0. 6-1.8 ng/dl) and the thyroid-stimulating hormone >48.0 (normal: 0. 1-4.0 IU). Clinical neurologic examination and electromyography were compatible with myopathy and polyneuropathy. Other causes of myopathy, except hypothyroidism, were excluded. After L-thyroxine therapy (1.7 microg/kg BW/day) during 3 months, the patient's symptoms and signs vanished, except for sensory disturbances, and creatine kinase values and electromyography became normal. Severe hypothyroidism may be associated with highly elevated creatine kinase and myopathy. Adequate therapy leads to complete recovery, including myopathy.

Creatine Kinase↗
PubMedDate not supplied

Maxillary canine-to-first premolar bilateral transposition in a female with Down syndrome. A case report.

OBJECTIVE AND IMPORTANCE: To report a case of the bilateral transposition of the maxillary canines with the premolars in a 17-year-old female with Down syndrome. CLINICAL PRESENTATION AND INTERVENTION: A 17-year-old female presented with moderate mental retardation; she was short and of small stature, and she had a round cherubic face and a broad forehead. Clinical intraoral examination revealed bilateral malpositions of the maxillary canines and premolars as transposition. She had an open mouth, macroglossia and a protruding tongue. The case required the combined orthodontic and prosthetic treatment to achieve an acceptable morphologic and esthetic occlusion. However, the parents refused to accept the proposed treatment. Extractions of the roots and caries treatment were done as these were considered priority for the patient. CONCLUSION: This rare and severe positional anomaly represents an orthodontic challenge and its correction involves treatment risk and requires a great deal of control and carefully applied mechanics.

Adolescent↗
PubMed2006

Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.

OBJECTIVE: To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. CASE AND METHODS: A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of hydrocephalus. Ultrasonography of the fetus showed cloverleaf skull with dilated lateral ventricles, exophthalmos, macroglossia, and a single ventricle of the heart in addition to polyhydramnios. MR imaging was performed at 30 weeks of gestation and revealed cloverleaf skull, dilated lateral ventricles, and broad thumb. Fetal karyotyping indicated 46,XY, but DNA sequence analysis showed a single sequence variation (Nt 1198A>G) in the fibroblast growth factor receptor (FGFR) 2 gene (exon 10). On the basis of these findings, the baby was diagnosed in utero with Pfeiffer syndrome type II. Following counseling, the pregnancy was terminated because polyhydramnios made the patient's symptoms more severe. The patient delivered her baby vaginally at 34 weeks of gestation. The baby's birth weight was 2,298 g; the baby was declared dead at 25 min after birth. CONCLUSION: The detailed findings obtained by a combination of ultrasound that included three-dimensional and MR imaging and confirmation sought via molecular testing led to an accurate diagnosis of Pfeiffer syndrome type II in utero.

Acrocephalosyndactylia↗
PubMed1977

Polygraphic study of periodic breathing and hypersomnolence in a patient with severe hypothyroidism.

A 67-year-old woman with primary hypothyroidism, who had Pickwickian syndrome as well, was studied electrophysiologically. A polygraphic study with simultaneous recordings of electroencephalography, actograms of the abdominal walls, the mentum and the anterior neck, and electromyogram of the intercostal muscles revealed a cyclic appearance of apnea in the sleep phase and gasping preceding arousal, which, together with macroglossia and sleep in the sitting position, suggested a cyclic obstruction of the upper airway. The obstruction appeared responsible for both alveolar hypoventilation and disturbance of consciousness.

Aged↗
PubMedDate not supplied

Amyloid and the gut.

The systemic amyloidoses are serious and potentially fatal disorders caused by deposition of autologous proteins in an abnormal fibrillar from. The clinical features are highly variable but gut involvement is common and random gastrointestinal biopsies are diagnostic in 80% of patients. Presentations include macroglossia, motility disorders, hemorrhage and pseudo-tumors, although amyloid can mimic almost any other gut pathology. Nonspecific mucosal abnormalities are common both radiologically and at endoscopy. Scintigraphy with serum amyloid P component demonstrates and quantifies the systemic amyloid deposits. Therapy that reduces the supply of the amyloid fibril precursor protein can markedly improve prognosis. Intensive nutritional support for malnourished patients, motility-enhancing drugs and octretide for motility disorders, and correction of clotting disorders in bleeding patients are important adjunctive treatments.

Amyloid↗
PubMedDate not supplied

Difficult laryngoscopy/intubation: the child with mandibular hypoplasia.

The child with mandibular hypoplasia (Treacher Collins syndrome, Pierre Robin sequence, hemifacial microsomia, etc) presents the otolaryngologist and anesthesiologist with considerable problems when direct laryngoscopy and/or endotracheal intubation is attempted. In addition to the small mandible, several other features of these patients contribute to the difficult laryngoscopy: macroglossia, glossoptosis, trismus related to temporomandibular joint abnormalities, and prominent maxilla or maxillary incisors. Most of the techniques that have been described for laryngoscopy/intubation in problem cases are difficult or impossible to use in infants and young children with mandibular hypoplasia. We present a modification of the standard direct laryngoscopic procedure, utilizing the 9-cm anterior commissure laryngoscope and an optical stylet in the task of exposing and intubating the larynx of a child with mandibular hypoplasia.

Humans↗
PubMed1994

Obstructive sleep apnea syndrome and acromegaly.

Obstructive sleep apnea syndrome is a complex disorder that has been associated with a variety of abnormalities of the upper airway, including tonsil and adenoid hypertrophy, nasal obstruction, retrognathia, and macroglossia. The cause of the airway obstruction in acromegaly is believed to be related to osseous and soft-tissue changes surrounding the upper airway, which lead to narrowing and subsequent collapse during sleep. We describe the results of treatment in seven patients with both sleep apnea and acromegaly. Four patients were treated by transsphenoidal hypophysectomy alone with a resolution of sleep apnea syndrome. One underwent hypophysectomy followed by postoperative radiation therapy, which reduced his apnea. Three patients underwent unsuccessful uvulopalatopharyngoplasty. Successful treatment of the primary disorder, in this case acromegaly, resulted in improved breathing during sleep in five patients. This series would suggest that acromegalic patients with sleep apnea should be treated for their pituitary tumor to reduce growth hormone before consideration of surgery to enlarge or bypass the upper airway.

Acromegaly↗
PubMed2006

Palifermin in a hematopoietic stem cell transplant patient with osteonecrosis of the jaw.

This case report describes the use of palifermin in a multiple myeloma patient with a history of osteonecrosis of the jaw (ONJ) for the prevention of high-dose chemotherapy-induced mucositis. Following the day of autologous stem cell infusion, palifermin was discontinued secondary to adverse events. Specifically, palifermin-associated macroglossia seemed to exacerbate the pain localized in the oral cavity area affected by ONJ, necessitating escalated doses of narcotic analgesics. When contemplating palifermin as a mucosal protectant in a hematopoietic stem cell transplant patient with ONJ, a careful benefit-to-risk assessment is in order to ensure optimal effectiveness without undue harm.

Fibroblast Growth Factor 7↗
PubMed1977

Skeletal muscle pseudohypertrophy in primary amyloidosis.

Macroglossia and skeletal muscle enlargement with weakness appeared in a 38-year-old male who was shown to have amyloidosis and light chain multiple myeloma. Free lambda light chains were present in serum and urine. Skeletal muscle contained large amounts of amyloid and other amorphous material infiltrating blood vessel walls and connective tissue. Muscle fibers, particularly the type II variety, were diminished in size. Amyloid and similar amorphous material also were present in skin. This patient represents an unusual, but somewhat uniform, type of involvement of the neuromuscular apparatus in nonfamilial primary amyloidosis.

Adult↗
PubMed2000

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

OBJECTIVE: To characterize the clinical phenotype of LGMD2C in gypsies. BACKGROUND: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. METHODS: We performed clinical, laboratory, and muscle imaging studies of 40 patients. RESULTS: Mean age at onset was 5.3 years. One half of the patients had loss of ambulation by the age of 12; 13% still could walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar hyperlordosis were common. Girdle, trunk, and proximal limb flexor muscles had earlier and more severe involvement. Cardiomyopathy was not observed. Five patients in the third decade of life required mechanical ventilation. Scoliosis was common in the nonambulatory stage. CONCLUSIONS: LGMD2C in gypsy patients with C283Y mutation presents a rather homogeneous phenotype, characterized by an initial Duchenne-like progressive course followed by a more prolonged survival rate possibly due to the absence of early respiratory impairment and cardiac failure.

Adolescent↗
PubMed2006

Vascular malformations of the tongue: MRI findings on three cases.

Vascular malformations are common lesions accounting for approximately 7% of all benign tumours, the majority of which develop in the head and neck region. Generally, vascular malformations such as lymphangiomas, haemangiomas, and arteriovenous communications in the head and the neck represent only an aesthetic problem. However, when localized in the tongue, these lesions can create clinical problems consisting, in the majority of cases, in spontaneous haemorrhage from the mouth. Although uncommon, progressive asymmetric growth of the tongue (macroglossia) can be also observed. Three consecutive cases of vascular malformations of the tongue have been studied with magnetic resonance imaging (MRI). Neither contrast medium administration nor angio-MR technique was used. In our experience, MR appears to be the ideal technique to define the site, extension and origin of vascular malformations, due to its ability to depict the typical signal flow voids in the lesions and to differentiate slow-flow lesions from high-flow ones.

Adult↗
PubMed2003

The longitudinal course of two cases with cretinism diagnosed after adolescence.

In Japan, mass screening tests on newborns for Cretinism have been performed since 1984, Cretinism is a very rare condition. We report the clinical course and complications of longitudinal thyroid hormone replacement therapy (liothyronine sodium: T3) of two women with Cretinism and ectopic thyroid gland for the past 33 years until 2001. They were born in April 1951 (Case 1) and in January 1952 (Case 2). On admission in June 1968, they were 17 and 16 years old. They had short stature, mental retardation, macroglossia, saddle nose, retardation of bone maturation, edematous face, coexistence of permanent teeth and deciduous teeth, abdominal distention, hypotonia, anemia, hypophosphatemia and hypercholesterolemia. After admission, Case 2 had an appendectomy for appendicitis. She was found to have a right ovarian cyst, but was not operated upon. Later, the right ovarian cyst disappeared during thyroid hormone replacement therapy. The complication in this case was NIDDM. Over secretion of thyroid hormone in for example, hyperthyroidism sometimes induces NIDDM. On their admission, a levothyroxine sodium (T4: Thyradin S) was unavailable in Japan, so we had no choice but to treat them with liothyronine sodium for thyroid hormone replacement therapy. We suspect that liothyronine sodium replacement therapy probably induced NIDDM. They experienced improved bone maturation, anemia, hypophsphatemia and hypercholesterolemia, but their intellectual and mental disabilities were not improved.

Adolescent↗
PubMed1981

Congenital laryngeal stridor secondary to flaccid epiglottis, anomalous accessory cartilages and redundant aryepiglottic folds.

Most laryngeal anomalies are supraglottic and laryngomalacia is the most common. Cysts, bifid epiglottis and absence of the epiglottis are uncommon. An 18-year-old Caucasian man had long-standing stridor caused by anomalous supraglottic structures: a small floppy epiglottis, enlarged accessory cartilages and redundant aryepiglottic folds. These structures were excised and the airway was improved. The ventral portions of the fourth arches become the aryepiglottic folds and lateral segments of the epiglottis. A disturbance in this portion of the fourth arch may explain the anomaly. The cartilaginous contributions to the epiglottis were possibly isolated as accessory cartilages. Epiglottic anomalies may be associated with other anomalies, especially the digits of the hand. This patient had a short lingual frenulum and mild macroglossia.

Adolescent↗