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Results for “Asymmetric overgrowth”

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At least 19 recordsLinked to original sources
PubMed1983

Tibia valga caused by asymmetrical overgrowth following a nondisplaced fracture of the proximal tibial metaphysis.

Tibia valga has been described as a consequence of nondisplaced fractures of the proximal metaphysis of the tibia in children. There has been considerable speculation about the cause of this deformity. The present case is that of a child who developed a valgus deformity of her tibia after the fracture had healed in a normal position. The presence of growth arrest lines in the proximal metaphysis of the tibia demonstrates that the valgus deformity in this patient was caused by overgrowth of the medial portion of the proximal tibial epiphyseal plate.

Bone Diseases, Developmental↗
PubMed2004

Craniofacial hyperostoses in Proteus syndrome -- a case report.

OBJECTIVE: Description of a patient with a rare syndrome leading to the partial overgrowth of craniofacial bones. CASE REPORT: In a 17-year-old female patient with severe hyperostoses of the craniofacial bones asymmetric overgrowth of the right upper and left lower limbs, linear hyperpigmentation of the right arm and a history of regional lipomatosis were found. These manifestations were suggestive of Proteus syndrome. The management of the craniofacial involvement is described and a literature overview presented. CONCLUSION: Proteus syndrome is a rare overgrowth syndrome probably related to a somatic mutation that involves craniofacial structures in about 30% of patients. Early diagnosis is required for adequate interdisciplinary treatment.

Adolescent↗
PubMed2006

Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?

BACKGROUND: It has been reported that the activating mutation, E133K, in the angiogenic factor VG5Q (formally named AGGF1) causes Klippel-Trenaunay Syndrome (KTS), a rare vascular disease associated with asymmetric overgrowth. This proposal followed from the observation that five out of 130 KTS patients were constitutionally heterozygous for VG5Q, E133K. OBJECTIVE: To explore the possibility that VG5Q, and specifically E133K, is implicated in other mosaic overgrowth syndromes. RESULTS: 24 patients were analysed for this sequence change. One patient was constitutionally heterozygous for E133K. Analysis of both parents revealed that the patient's mother, who was healthy, also carried E133K. An analysis of 275 healthy controls showed that 3.3% (9/275) of the population were carriers of E133K. CONCLUSIONS: The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS.

Amino Acid Substitution↗
PubMed1998

Proteus syndrome with widespread portwine stain naevus.

Proteus syndrome is a rare condition comprising asymmetrical overgrowth of different parts of the body in association with various cutaneous abnormalities. We describe a 3-year-old boy with Proteus syndrome, who presented with hemihypertrophy of the right leg, asymmetric macrodactyly, subcutaneous masses and a widespread portwine stain interspersed with angiokeratomas on the right leg, scrotum and on the middle and left side of the back. Doppler ultrasound of the right leg did not show hypercirculation, but did reveal the absence of the right superficial femoral vein.

Child, Preschool↗
PubMed2003

Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of Cowden syndrome and tuberous sclerosis. It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth.

Growth Disorders↗
PubMed2006

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

Isolated hemihyperplasia (IH) refers to a distinct diagnosis involving asymmetric overgrowth of single or multiple organs or regions of the body and can result from various genomic changes including molecular alterations of 11p15; these are paternal uniparental disomy (UPD), and alterations of methylation at two imprinting centers at 11p15: IC1 (H19) and IC2 (KCNQ1OT1). As little information is available on the molecular basis of tumor development in IH, or on the frequency of tumors in children with different molecular subtypes of IH, molecular testing was undertaken on 51 patients with IH and revealed: 8 (16%) with UPD, 3 (6%) with hypomethylation at KCNQ1OT1, and 0 with hypermethylation at H19. Of the 8 patients with UPD, 4 had tumors (3 hepatoblastomas, 1 Wilms tumor); 0/3 patients with hypomethylation at KCNQ1OT1 had a tumor; of the remaining 40 with no molecular alterations, 6 had tumors (3 Wilms tumors, 2 neuroblastomas, 1 adrenocortical adenoma). The 50% tumor frequency in patients with IH and UPD was statistically significantly higher than the 15% tumor frequency in those with IH and no molecular alteration detected (Fisher's exact test P = 0.047, OR 5.67). This is the first demonstration that UPD at 11p15 in patients with IH confers a higher tumor risk than in patients with IH without this molecular change. Of note, two of the eight patients with UPD and IH were conceived using assisted reproductive technologies (ART), thus raising the question whether ART might impact the rate of somatic recombination during embryonic development.

Abnormalities, Multiple↗
PubMed2005

Proteus syndrome: an update.

Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts; cerebriform connective tissue nevi; epidermal nevi; vascular malformations of the capillary, venous, and lymphatic types; and dysregulated adipose tissue. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms. Somatic mosaicism, lethal in the nonmosaic state, is the best working hypothesis. Although Proteus syndrome data are consistent with this hypothesis, it has not been proven. The etiology is unknown to date. Diagnostic criteria are emphasized because misdiagnosis of Proteus syndrome is common. Finally, evaluation and management are discussed.

Diagnosis, Differential↗
PubMed2003

Lifetime consequences of abnormal fetal pancreatic development.

There is ample evidence that an adverse intrauterine environment has harmful consequences for health in later life. Maternal diabetes and experimentally induced hyperglycaemia result in asymmetric overgrowth, which is associated with an increased insulin secretion and hyperplasia of the insulin-producing B-cells in the fetuses. In adult life, a reduced insulin secretion is found. In contrast, intrauterine growth restriction is associated with low insulin secretion and a delayed development of the insulin-producing B-cells. These perinatal alterations may induce a deficient adaptation of the endocrine pancreas and insulin resistance in later life. Intrauterine growth restriction in human pregnancy is mainly due to a reduced uteroplacental blood flow or to maternal undernutrition or malnutrition. However, intrauterine growth restriction can be present in severe diabetes complicated by vasculopathy and nephropathy. In animal models, intrauterine growth retardation can be obtained through pharmacological (streptozotocin), dietary (semi-starvation, low protein diet) or surgical (intrauterine artery ligation) manipulation of the maternal animal. The endocrine pancreas and more specifically the insulin-producing B-cells play an important role in the adaptation to an adverse intrauterine milieu and the consequences in later life. The long-term consequences of an unfavourable intrauterine environment are of major importance worldwide. Concerted efforts are needed to explore how these long-term effects can be prevented. This review will consist of two parts. In the first part, we discuss the long-term consequences in relation to the development of the fetal endocrine pancreas and fetal growth in the human; in the second part, we focus on animal models with disturbed fetal and pancreatic development and the consequences for later life.

Animals↗
PubMed1994

Relationships between radiography of cervical vertebrae and histopathology of the cervical cord in wobbling 19 foals.

Nineteen wobbling foals (17 males and 2 females) showing lameness of hindlimbs at 6 to 21 months of age were investigated radiographically and histopathologically. Minimum sagittal diameter (MSD), minimum flexion diameter (MFD) and minimum dural sagittal diameter (MDD) were measured on plain radiograms or myelograms taken at neutral and flexed positions as indicators of narrowed vertebral canal. After necropsy, the cervical spines and the spinal cord were examined macroscopically and respectively the relationships between radiographic findings and the corresponding morphological lesions were evaluated. Radiographically, lower values than each minimum reference limits were recorded in 14 foals in MSD, 5 foals in MFD and 6 foals in MDD, respectively. According to the histopathologic examination, the disappearance of axons and myelin sheaths, vacuolated spongy degeneration and appearance of macrophages were recognized symmetrically in the white matter of the cervical cord. These lesions were centrally located at the spinal cord radiographically demonstrated as compressed sites in 12 out of 17 foals examined. Macroscopically, asymmetrical overgrowth of one side of the process, encroachment of articular processes into the intervertebral foramina and proliferation of bone around articular facets were observed in the articular processes of bone specimens in the caudal neck of 6 foals. In conclusion, the equine incoordination might mainly be caused by the cervical stenotic myelopathy resulting from cervical vertebral malformation, and therefore the cervical vertebral radiography, especially myelography, is quite very important and effective for the diagnosis of wobbling foals.

Animals↗
PubMed2000

Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.

"Genetic mosaicism" describes the presence of two or more populations of cells within a single individual that differ in their genomic constitution. Although the occurrence of asymmetric overgrowth in Wiedemann-Beckwith syndrome (WBS) suggests that mosaicism has some role in the WBS phenotype, no direct evidence for this has been published. WBS is a congenital overgrowth syndrome with variable phenotype linked to the imprinted gene cluster on chromosome region 11p15. We have performed a molecular survey of multiple organs and tissues in a case of WBS with a high degree of mosaic paternal 11p15 uniparental disomy (UPD). The organs most severely affected were those with the highest percentage of cells with UPD. In particular there was a striking difference in the degree of mosaicism for 11p15 UPD between the extremely enlarged left adrenal and non-enlarged right adrenal gland. This result indicates that the proportion of paternal 11p15 UPD cells correlates with the tissue phenotype of WBS. Our results suggest that high proportions of abnormal cells result from a combination of stochastic events and cell selection. Mosaicism may explain the variable phenotypes including hemihyperplasia and predisposition to childhood cancers in WBS patients.

Adrenal Glands↗
PubMed2005

Hemihyperplasia with Ehlers-Danlos syndrome like skin changes.

Hemihyperplasia is a condition characterized by asymmetric overgrowth of one or more body parts. It may be an isolated finding or may be associated with various syndromes like Beckwith-Weidemann syndrome, Klippel-Trenaunay-Weber syndrome, Proteus syndrome etc. Pigmentary skin lesions and capillary malformations are commonly seen in cases of hemihyperplasia. We report a case of hemihyperplasia with associated skin hyperextensibility, varicose veins, skin fragility, easy bruising and papery scars, on the side of hyperplasia. This is the first report of association of isolated hemihyperplasia with skin changes similar to Ehlers-Danlos syndrome.

Abnormalities, Multiple↗
PubMed1978

Dysplasia epiphysealis hemimelica of the ulna.

A 3-year-old boy developed an abnormality of the forearm and wrist characterized by asymmetrical overgrowth, premature ossification of the distal ulnar epiphysis, shortening of both bones of the forearm, dorsal bowing of the ulna and formation of an enlarged lunate from 2 ossification centers. The eccentric overgrowth of the distal ulnar epiphysis was similar to the abnormality seen in dysplasia epiphysealis hemimelica of the long bones of the lower limbs, tarsal and carpal bones.

Child, Preschool↗
PubMed2004

A case of familial isolated hemihyperplasia.

BACKGROUND: Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedemann syndrome (BWS). Isolated hemihyperplasia is usually sporadic, but a number of familial occurrences have been described. CASE PRESENTATION: We describe a Tunisian family in which three maternal cousins and their maternal grandfather present with isolated hemihyperplasia. CONCLUSIONS: The etiology of isolated hemihyperplasia is unknown although in BWS, genomic imprinting has been shown to play a role in the asymmetric overgrowth. Given the similarity between these two conditions, it is possible that both may share a common pathogenesis. We also discuss the possible genetic mechanisms leading to the production of hemihyperplasia in this family.

Child, Preschool↗
PubMed2006

Morphological characterization of the breast in Proteus syndrome complicated by ductal carcinoma in situ.

Proteus syndrome (PS) is a severe, variable, and rare disorder with asymmetric and disproportionate overgrowth of body parts, cerebriform connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. It is associated with benign and occasionally malignant tumors. We report the first case of ductal carcinoma in situ (DCIS) in a 28-yr-old woman with PS who underwent a mastectomy for asymmetric overgrowth. The cut surface of the tissue showed a discrete, white, lobulated, solid mass with multiple cysts with occasional small polypoid nodules. Microscopically, the tissue was characterized by neoplastic and non-neoplastic changes. The former consisted of multiple intraductal papillomas and low-grade intraductal papillary, solid, and cribriform carcinoma. The non-neoplastic changes were characterized by cysts of various sizes, lined by cuboidal or apocrine cells, focally with epithelial papillary proliferation; the lumens contained eosinophilic, mucicarmine-positive, and PAS-positive material. Variable ductal proliferation and periductal, peri- and intra-lobular fibrosis with loose fibrous connective tissue was present. The carcinoma was positive for ER, PR, CK7, and MIB-1 (40%), and negative for p53 and CK20 staining. We conclude that DCIS may be one of the tumors associated with PS and that the proliferative phenotype serves as an initiator for carcinogenesis. This case highlights the difficulty of recognizing small foci of carcinoma in an asymmetrical overgrowth of the breast in a young woman with PS.

Adult↗
PubMedDate not supplied

Radiologic manifestations of Proteus syndrome.

Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer. The disease process is not usually apparent at birth but develops rapidly in childhood. Common manifestations include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective-tissue nevi, and vascular malformations. The features of Proteus syndrome indicate that the condition may be caused by a somatic alteration in a gene, but no specific genetic mutation has yet been identified. Therefore, the diagnosis and management of the disease depend heavily on clinical evaluation and imaging. Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes.

Adipose Tissue↗
PubMedDate not supplied

Overgrowth management in Klippel-Trenaunay-Weber and Proteus syndromes.

Twenty-eight patients with limb overgrowth and the diagnosis of Klippel-Trenaunay-Weber or Proteus syndromes were evaluated retrospectively. These disorders are part of the phakomatosis spectrum of syndromes. The orthopedic problems consisted of asymmetric limb overgrowth, localized gigantism, angular deformities, scoliosis, vascular malformations, and skin anomalies. Systemic abnormalities are common and deserve full evaluation before treatment. Surgical treatment consisted of epiphysiodesis, osteotomies, debulking procedures, and amputation. Mixed results were obtained with surgery, and conservative or supportive treatment should be the primary mode of orthopedic care.

Adolescent↗
PubMed2025

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

PURPOSE: To provide diagnostic guidance for individuals with lateralized overgrowth (LO) and implement appropriate screening protocols. LO without a syndromic presentation is considered idiopathic isolated lateralized overgrowth (ILO). METHODS: We performed a literature search of LO syndromes and malignancy risk and reviewed existing guidelines and expert input. RESULTS: We integrated 940 unique articles to form recommendations. We defined LO as significantly larger length and/or girth of aspect(s) of one side of the body compared with its contralateral side. It can be associated with somatic overgrowth syndromes. ILO was previously defined based on clinical features and deemed idiopathic by absence of molecular findings. Much of the tumor risk is likely because of specific LO syndromic causes now identified through improved diagnostic technologies; therefore, the tumor risk in idiopathic ILO is likely lower than previously accepted. CONCLUSION: Mosaicism complicates molecular diagnosis for children with LO. However, conditions such as Beckwith-Wiedemann spectrum and PTEN-related hamartoma tumor syndrome necessitate routine tumor screening. Establishing a specific diagnosis via comprehensive molecular testing on affected tissue will guide screening and management. In cases of idiopathic ILO, location of the overgrowth, estimation of tumor risk, regional practice approaches and family concerns all play roles in determining tumor screening.

Child↗