Crouzon’s Syndrome: A Case Report

Sharma, Gopal; Meena, Dinesh kumar; Gulati, Reena

doi:10.15373/22501991/feb2014/71

Cited by 5 publications

(6 citation statements)

References 1 publication

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“…The XRD pattern of silica nanoparticles is characterized by a broad diffraction hump centred on 2 θ = 23° (Figure a). Upon organic modification by the synthesized bis‐silane, a similar diffraction pattern is seen which confirms the structural integrity of the silica support after the sol–gel processing, while slight decline in the reflection intensity indicates the organic tethering . Furthermore, the pattern does not contain any other diffraction peak, pointing to the purity of the hybrid.…”

Section: Resultsmentioning

confidence: 99%

An expedient ‘click’ approach for the synthetic evaluation of ester‐triazole‐tethered organosilica conjugates

Singh

Rani

2017

Applied Organom Chemis

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The present work articulates the synthesis of a new series of organo‐functionalized triethoxysilanes derived from versatile carboxylic acids and 3‐azidopropyltriethoxysilane in excellent yields. A proficient and convenient route implicating the Cu(I)‐catalysed 1,3‐cycloaddition of organic azide with terminal alkynes, labelled as click silylation, has been developed for the generation of ester‐triazole‐linked alkoxysilanyl scaffolds (4a–f). All the synthesized compounds have been thoroughly characterized using elemental analysis and Fourier transform infrared, 1H NMR and 13C NMR spectroscopic techniques. Importantly, the fabricated alkoxysilanes are potentially amenable for an in situ sol–gel condensation reaction with silica nanospheres leading to the incorporation of organic functionality via covalent grafting onto the nanostructured particle system. As a proof of concept, a one‐pot preparation of organic–inorganic hybrid nanoparticles is presented using bis‐silane 4 f. The efficiency and selectivity of the prepared nanocomposite towards metal ions is highlighted using adsorption experiments, and the immobilized nanoparticles present a high sensing efficiency towards Cu2+ and Pb2+ ions while demonstrating better response than that of the bulk material.

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Section: Resultsmentioning

confidence: 99%

An expedient ‘click’ approach for the synthetic evaluation of ester‐triazole‐tethered organosilica conjugates

Singh

Rani

2017

Applied Organom Chemis

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“…It is a milder form of Goldenhar syndrome [1][2][3][4][5][6][7][8][9][10][11][12][13] with limbal dermoids (Figure 3), eyelid coloboma, preauricular skin tags (Figure 4), hemi-facial microsomia ( Figure 5) and no systemic involvement. Large limbal dermoid excision and autologous conjunctiva and corneal limbal stemcell transplantation is the valid treatment option instead of conventional methods with successful post-operative results.…”

Section: Resultsmentioning

confidence: 99%

“…In most cases (about 60%) typically one side, mostly the right side, more affected than the other (asymmetry). 1,6,10 and ocular anomalies especially dermoids (60% cases), vertebral anomalies (40% cases) and ear anomalies (40% cases) are seen 1,6 .…”

Section: Introductionmentioning

confidence: 99%

Limbal Stem Cell Transplantation for Limbal Dermoid in a Case of Goldenhar Syndrome

Pawar¹,

Shah²

2014

MVP J Med Sci

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Goldenhar Syndrome (known as Oculoauriculovertebral Syndrome (OAVS) or facioauriculovertebral dysplasia) is a rare congenital defect classically involving eye anomalies with or without anomalous development of the ear, nose, lips, soft palate, mandible and vertebra. It is a morphogenetic anomaly associated with the 1st and 2nd branchial arches.We report a case of 9 months old male child presented with ocular abnormalities. On evaluation, he had the classical signs of this syndrome like limbal dermoids, eyelid coloboma, preauricular skin tags and hemi facial microsomia. This patient was first seen in January 2010 and has been followed and treated for the same. The patient underwent a surgery for right eye limbal dermoid at the age of 4 years.The initial presentation with course of the disease and Post-Surgical outcome is described here. The Authors performed dermoid excision with autologous conjunctiva along with limbal stem cells transplantation and achieved a satisfactory surgical outcome.

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“…Reconstruction surgeries of the external ear may be performed at the age of 6 to 8 years. In patients with milder involvement, jaw reconstruction surgeries can be done in the early teens; epibulbar dermoids should be surgically excised [7,8]. Structural anomalies of the eyes and ears can be corrected by plastic surgery [7].…”

Section: Discussionmentioning

confidence: 99%

Goldenhar Syndrome: A Case Report with Review of Literature

Lakshman¹

2017

MOJBM

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Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the ear prosthesis.Keywords: Goldenhar syndrome; Hypoplasia of malar Bone; Facial palsy; Ear tags; Ocular dermoids vertebral malformation complex [1,2]. We are reporting a case of Goldenhar syndrome in a 6 year old boy with ear deformities, ocular dermoids, facial paralysis, mental retardation and skeletal abnormalities with hypoplasic malar and maxillary bone. Case ReportA 6 year old male patient, born of non consanguineous marriage, presented to our department with the complaint of deformed left ear since birth. It was associated with decreased hearing. Medical history revealed cleft palate surgery at the age of 1 year. The child was born of a full-term normal delivery and there was no history of any maternal illness during the pregnancy. But the child was cyanotic at the time of birth. All other family members were normal. Personal history showed normal bowel and bladder habits, undisturbed sleep. On General Examination, he was conscious and cooperative but had reduced grasping power and learning skills. Vital signs were within normal limits with no peripheral signs. Altered posture was noticed as the shoulder levels were not at same level (Figure 1). On extra oral examination, facial asymmetry was detected due to hallowing of left cheek and hypoplasia of left malar region, hypoplasia of maxillary bone and prognathic mandible (Figure 2). Facial profile was straight and leptoprosopic facial form was noticed. Deformed left ear and ear tags were seen on the right side (Figure 3). Hypertelorism was present. Ocular changes showed whitish area near outer canthus of both eyes approximately measuring 1X1cms suggestive of epibulbar dermoids on both sides (Figure 4). Cranial nerve examination revealed left facial nerve paralysis as he was unable to raise his eyebrows, no wrinkles on the forehead and unable to blow the cheeks on left side. On Intraoral Examination, palatal scar noticed suggestive of previous surgery for cleft palate and hard tissue examinations showed multiple root stumps and Angle's class III malocclusion. The orthopantomograph showed mixed dentition ( Figure 5) and the lateral cephalograph revealed malar and maxillary hypoplasia ( Figure 6). We diagnosed the patient as a case of Goldenhar syndrome on the basis of multiple accessory tragi, ocular dermoids, hypoplastic malar process, facial nerve paralysis, mental retardation and skeletal abnormalities. Patient was referred for auricular surgery followed by ear prosthesis replacement.

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Crouzon’s Syndrome: A Case Report

Cited by 5 publications

References 1 publication

An expedient ‘click’ approach for the synthetic evaluation of ester‐triazole‐tethered organosilica conjugates

An expedient ‘click’ approach for the synthetic evaluation of ester‐triazole‐tethered organosilica conjugates

Limbal Stem Cell Transplantation for Limbal Dermoid in a Case of Goldenhar Syndrome

Goldenhar Syndrome: A Case Report with Review of Literature

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