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Nasopalpebral Lipoma - Coloboma - Telecanthus Syndrome


Presentation

  • JP Medical Ltd, ٣١‏/٠٣‏/٢٠١٢ - 548 من الصفحات The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms.[books.google.com]
  • Results: Thirty-one patients (77.5%) presented with an upper eyelid coloboma and 9 patients (22.5%) had a lower eyelid coloboma. 12 (30%) presented with bilateral lid defect, 16 cases had right eyelid defect and 12 (30%) had left eyelid defect.[drgolamhaider.com]
  • All cases reported in the literature have occurred in the first three decades of life [50], with our review yielding an average age of presentation as 17 years. Facial asymmetry at birth is a common clinical presentation of CIL-F [51].[slideheaven.com]
  • Preensão presente ( /4 ). Paratonia presente, bilateralmente. Discinesia orolingual presente (provavelmente secundária ao uso de ... 7 Anamnese e exame físico: Avaliação diagnóstica de enfermagem ... ...[educalingo.com]
  • Typically the defect is present at the site of ...[biomedsearch.com]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]
  • In these cases of liposarcoma, history of rapid tumor growth rate and any associated skin changes or lymphadenopathy must be noted by physicians.[slideheaven.com]
Multiple Congenital Anomalies
  • congenital anomalies- hypotonia-seizures syndrome 10 Cases 300496 Multiple congenital anomalies- hypotonia-seizures syndrome type 2 5 Cases 652 Multiple endocrine neoplasia type 1 3.3 P * 653 Multiple endocrine neoplasia type 2 2.9 P * 251 Multiple epiphyseal[azkurs.org]
  • Congenital Anomalies Syndrome with Cloverleaf Skull multiple congenital anomalies-hypotonia-seizures syndrome Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability Multiple Hamartoma Syndrome Multiple Mitochondrial Dysfunctions Syndrome[rgd.mcw.edu]
  • Congenital Anomalies Syndrome with Cloverleaf Skull multiple epiphyseal dysplasia Nablus Mask-Like Facial Syndrome Nasopalpebral Lipoma Coloboma Syndrome Nasu-Hakola disease Nievergelt Syndrome Ohdo syndrome Ollier disease omodysplasia Opsismodysplasia[rgd.mcw.edu]
  • A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome[thieme-connect.com]
  • congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.[mendelian.co]
Surgical Procedure
  • Although surgical procedures correct the anatomical anomalies, the post-operative bowel function is not universally satisfactory. The etiology of ARM remains unclear.[scinapse.io]
  • The surgical procedure was selected according to the size of defect and finally cosmetic outcome of surgical intervention was judged.[drgolamhaider.com]
  • procedures thatmight be followed in these highly unusual cases.Our patient presented a unilateral upper palpeb-ral coloboma, whose features were typical of acoloboma associated with facial deformities (tri-angular shape, no eyelid margin medial to thedeformity[docslide.com.br]
  • One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions.[healthdocbox.com]
Fracture
  • The new final section covers orbital and lacrimal surgery including blowout fracture of the orbital floor, neuroophthalmologic injuries, evisceration and enucleation, late repair of orbital fractures, and management of the lacrimal system.[books.google.com]
  • , Short Limb-Hand Type Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta Spondylometaphyseal Dysplasia, 'Corner Fracture[rgd.mcw.edu]
  • Mechanical injury or repair of injury (1) Lower lid transconjunctival approach for floor fracture repair or blepharoplasty (2) After enucleation (3) After ectropion repair (4) Thermal bums to face/lids C. Surgery Byrnes GA. Congenital distichiasis.[dentisty.org]
Lacrimation
  • The new final section covers orbital and lacrimal surgery including blowout fracture of the orbital floor, neuroophthalmologic injuries, evisceration and enucleation, late repair of orbital fractures, and management of the lacrimal system.[books.google.com]
  • 59 Frequent (79-30%) 34 atretic lacrimal punctum 59 Frequent (79-30%) 35 lipomas of upper eyelids 59 Frequent (79-30%) 36 absent lacrimal punctum 32 HP:0001092 37 epiphora 32 frequent (33%) HP:0009926 38 lacrimal punctal atresia 32 frequent (33%) HP:[malacards.org]
  • Affected individuals have a broad forehead, window's peak, abnormal pattern of eyebrows and eyelashes, and maldevelopment of the lacrimal punctae.[ncbi.nlm.nih.gov]
Strabismus
  • Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com]
  • One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions.[healthdocbox.com]
  • Interorbital distance is normal, but interpupillary distance is increased due to divergent strabismus originating from visual interference from inner canthal masses.[ncbi.nlm.nih.gov]
  • Management of this patients also included further surgical repair of his telecanthus, nasolacrimal duct reconstruction, and continued follow-up for strabismus and amblyopia. Resources - Nasopalpebral lipoma coloboma syndrome[checkorphan.org]
Ptosis
  • Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com]
  • The reconstructive surgery section covers ptosis surgery, upper and lower eyelid reconstruction, entropion and ectropion reconstruction, surgery for facial paralysis, malignant eyelid tumors, Graves’ disease, and the treatment of pediatric patients.[books.google.com]
  • The girl showed brachycephaly, bilateral blepharophimosis and ptosis, S-shaped palpebral fissures, bilateral lower lid lagophthalmos (' hare eye '; inability to close the eye completely), limbic dermoid of the left eye, coloboma of the upper lid, bilateral[findzebra.com]
  • , Syndactyly, and Short Stature blepharophimosis, ptosis, and epicanthus inversus syndrome blepharophimosis-intellectual disability syndrome, SBBYS type Blount's disease Boomerang dysplasia Bpes With Duane Retraction Syndrome Brachydactyly, Coloboma,[rgd.mcw.edu]
Antimongoloid Slant
  • Characteristic features of these syndromes include preauricular tags, vertebral anomalies, epibulbar dermoid, and eyelid coloboma (Goldenhar syndrome); antimongoloid slant, colobomas of lateral lower eyelids, cataract, microphthalmos, and atresia of lacrimal[ncbi.nlm.nih.gov]
Chemosis
  • The following section discusses aesthetic surgery including procedures such as brow lift, upper and lower blepharoplasty, midface lift, treatment of malar bags and festoons, lateral canthal dysfunction, and management of chemosis.[books.google.com]
Hypertelorism
  • 6011000124106 MAPTARGET H90.5 6011000124106 MAPPRIORITY 1 6011000124106 MAPRULE OTHERWISE TRUE 6011000124106 MAPRULE IFA 724280001 Hypospadias, hypertelorism, coloboma, deafness syndrome 6011000124106 MAPGROUP 4 900000000000509007 ACCEPTABILITYID 900000000000548007[bioportal.bioontology.org]
  • Smith DW, Cohen MM Jr (1973) Widow's peak scalp anomaly, origin and relevance to ocular hypertelorism. Lancet 11:1127 Google Scholar 10. Tessier P (1976) Orbital hypertelorism: symposium on plastic surgery in the orbital region.[link.springer.com]
  • Clinical description Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. Genetic counseling It is transmitted as an autosomal dominant trait with complete penetrance.[orpha.net]
Suggestibility
  • Further reading suggestions appear after each diagnostic description.[books.google.com]
  • Clinical features Gollop (1981) suggested that a disorder observed in a brother and sister whose parents were first cousins once removed represented a 'new' autosomal recessive disorder, which he called frontofacionasal dysostosis.[findzebra.com]
  • Possible association between variation in the ZDBF2 gene and nasopalpebral lipoma-coloboma syndrome has been suggested but not confirmed. Diagnosis - Nasopalpebral lipoma coloboma syndrome NPLCS is characterized by its typical clinical picture.[checkorphan.org]
  • A computed tomographic scan was ordered, which showed a significantly hypodense lesion on the right side of the nose that was highly suggestive of a lipoma [ Fig. 3 ].[ncbi.nlm.nih.gov]
Nystagmus
  • Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com]
  • In addition to the ocular and maxillofacial findings described in the existing literature, the patient had small amplitude jerk nystagmus with a latent component, high hyperopic astigmatism, and variable, intermittent exotropia which resolved with part-time[omim.org]
  • It is a bilateral, nonprogressive condition that is associated with decreased visual acuity and nystagmus. A case of a 14-year-old boy with an unusual presentation of extensive macular colobomata is described.[biomedsearch.com]
  • A small amplitude jerk nystagmus with a latent component was noted. The patient was unable to abduct the left eye past the midline. Adduction could not be adequately evaluated due to the large nasal skin folds overlying the nasal conjunctiva.[jamanetwork.com]

Workup

  • (Review of lipomas and epidermal inclusion cysts including workup and treatment.) Bancroft, LW, Kransdorf, MJ, Peterson, JJ, O'Conner, MI. "Benign fatty tumors: classification, clinical course, imaging appearance, and treatment".[dermatologyadvisor.com]
  • (Review of lipomas and epidermal inclusion cysts including workup and treatment.) Bancroft, LW, Kransdorf, MJ, Peterson, JJ, O’Conner, MI. “Benign fatty tumors: classification, clinical course, imaging appearance, and treatment”.[dermatologyadvisor.com]

Treatment

  • A new section has been added on aesthetic nonsurgical state-of-the-art periorbital treatments with an update on injectable fillers, botulinum toxin injections, and fat grafting.[books.google.com]
  • (Review of lipomas and epidermal inclusion cysts including workup and treatment.) Bancroft, LW, Kransdorf, MJ, Peterson, JJ, O’Conner, MI. “Benign fatty tumors: classification, clinical course, imaging appearance, and treatment”.[dermatologyadvisor.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis - Nasopalpebral lipoma coloboma syndrome Management is essentially for cosmetic purposes and good results can be obtained by surgical excision of the lipoma and direct closure of the eyelid coloboma.[checkorphan.org]
  • Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A 2007; 143A (24) 3069-3078 13 Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L.[thieme-connect.com]
  • IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008 ).[mendelian.co]

Etiology

  • To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology of the disease remains unknown. In this work, the results of whole exome sequencing in a sporadic NPLCS patient are presented.[jhu.pure.elsevier.com]
  • Symptoms - Nasopalpebral lipoma coloboma syndrome Causes - Nasopalpebral lipoma coloboma syndrome Prevention - Nasopalpebral lipoma coloboma syndrome To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology[checkorphan.org]
  • Such a constellation of findings has not previously been described and it is proposed that an autosomal recessive inheritance pattern is themost likely etiology.[flip-programs.com]
  • Generally, amino acids with high conservation are considered to be sensitive to mutation, and thus, the identified site is likely to be the etiology.[docksci.com]

Epidemiology

  • Summary Epidemiology It has been described in less than 30 patients. Clinical description Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features.[orpha.net]
  • In this review, we summarize the current understanding of the genetic and epigenetic factors contributing to the pathogenesis of ARM, based on published animal models, human genetics and epidemiological researches.[scinapse.io]
Sex distribution
Age distribution

Pathophysiology

  • Etiology — fat accumulation Pathophysiology — unclear Systemic Implications and Complications Most retroperitoneal tumors are well-differentiated or de-differentiated liposarcomas.[dermatologyadvisor.com]
  • Discussion Author Manuscript The pathophysiology of the NPLCS is currently unknown.[docksci.com]
  • Although there might be a rare genetic predisposition, most cases are sporadic, with exact risk factors and pathophysiology still unknown.[slideheaven.com]

Prevention

  • Symptoms - Nasopalpebral lipoma coloboma syndrome Causes - Nasopalpebral lipoma coloboma syndrome Prevention - Nasopalpebral lipoma coloboma syndrome To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology[checkorphan.org]
  • Treatment of colobomas, as noted before, is aimed at preventing eye damage; in the upper eyelid, this is due to corneal exposure.[docslide.fr]
  • Immediate attention at an early age through corneal protection, surgical repair of the eyelid defect, and monitoring of the visual development are essential to prevent complications: corneal leukoma, symblepharon, and amblyopia [4 6].[healthdocbox.com]
  • Some authors recommend wide and early local excision to prevent extensive infiltration. In contrast, others suggest that by delaying resection, the number of debulking procedures would diminish [48].[slideheaven.com]

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