scholarly journals Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-5
Author(s):  
Manoj Kumar ◽  
Rakesh Kumar ◽  
Mukesh Tanwar ◽  
Supriyo Ghose ◽  
Jasbir Kaur ◽  
...  
Keyword(s):  
Physical Examination ◽  
Medical Records ◽  
Autosomal Dominant ◽  
Common Type ◽  
Interstitial Deletion ◽  
Treacher Collins Syndrome ◽  
Autosomal Dominant Disorder ◽  
Severe Manifestation ◽  
Numerical Chromosomal Abnormality ◽  
Mandibulofacial Dysostosis

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.

scholarly journals NEUROREHABILITATION WITH PADOVAN METHOD IN A NEWBORN WITH TREACHER COLLINS SYNDROME: A CASE REPORT

2018 ◽  
Vol 3 (5) ◽  
pp. 1-7
Author(s):  
Erikson De Luna Delmondes ◽  
Lucas Tavares Cruz de Albuquerque ◽  
Lilianny Medeiros Pereira
Keyword(s):  
Speech Therapy ◽  
Motor Coordination ◽  
Autosomal Dominant ◽  
Treacher Collins Syndrome ◽  
Neurological Rehabilitation ◽  
Autosomal Dominant Disorder ◽  
Divergent Strabismus ◽  
Craniofacial Malformation ◽  
The Central Nervous System ◽  
Respiratory Discomfort

Treacher Collins Syndrome (TCS) is an autosomal dominant disorder that leads to congenital craniofacial malformation, and may then be assisted by the Padovan Method® for neurological rehabilitation. That being said, the aim of this article is to report the functional improvements obtained by a patient with TCS who underwent the Padovan Method®. The child was born on november 26th of 2014, cesarean delivery, 37 weeks, Apgar 9/10, weighted 3625g, PC = 35cm, C = 49CM, presenting mild respiratory discomfort, absence of suction and the presence of syndromic facies, which is characteristic of TCS with retrognathism, oblique palpebral cleft downward divergent strabismus on left, pointed ears with cleft lobes, narrow auditory canal, malar hypoplasia and narrow palate. Padovan therapy was initiated at the 6th day of life, from orofacial, vestibular, ocular and motor exercises that seek to recapitulate the neuroevolutionary phases of human development with the purpose of propitiating a motor and neurological maturation of the central nervous system (CNS) and the correction of its possible failures. The child presented suction on the second day of therapy and on the fifth day was discharged from the hospital with good suction to the breast. The patient was followed up on an outpatient office and was given physiotherapy and speech therapy. The patient no longer received the Padovan Method® because at that time it was not available outside the hospital. Upon returning to childcare at age of 3, a good motor coordination performance was noticed, also speaking few loose words, but with good interaction and understanding. Therefore, due to the lack of standard behavior in neonatal neurological rehabilitation, considering the concepts of neuroplasticity andknowing the importance of early intervention, the Padovan Method® is shown as an alternative in the CNS reorganization in patients with TCS.

scholarly journals Treacher Collins Syndrome : A Case Report

2014 ◽  
Vol 13 (2) ◽  
pp. 70-74
Author(s):  
Tarannum Morshed ◽  
Fonindro Nath Paul ◽  
R N Sarker ◽  
Shahara Haque ◽  
Sadia Sultana
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Female Child ◽  
Craniofacial Development ◽  
Treacher Collins Syndrome ◽  
Autosomal Dominant Disorder ◽  
Anterior Teeth ◽  
Lower Jaw ◽  
Essential Components ◽  
Physical Features

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after Edward Treacher Collins (1862-1932), the English surgeon and ophthalmologist, who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), Conducting hearing loss, under developed zygoma, drooping part of lateral lower eyelids, and malformed or absent ears. This article describes clinical and radiological features of TCS in a 07 yr old female child who had reported to the department of Dentistry and Radiology with the complaint of forwardly placed upper anterior teeth and hearing loss. Also pathogenesis, prenatal diagnosis, differential diagnosis, management and preventive aspects are discussed.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i2.21074

scholarly journals A CASE OF TREACHER COLLINS SYNDROME

2013 ◽  
Vol 16 (2) ◽  
pp. 77-80
Author(s):  
S. Ulusal ◽  
H. Gürkan ◽  
Ü. Vatansever ◽  
K. Kürkçü ◽  
H. Tozkir ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Craniofacial Development ◽  
Treacher Collins Syndrome ◽  
Autosomal Dominant Disorder ◽  
Turkish Patient ◽  
Live Births

ABSTRACT Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

2020 ◽  
Vol 33 (7) ◽  
pp. 963-966
Author(s):  
Haruka Kawamura ◽  
Satoshi Watanabe ◽  
Takashi I ◽  
Izumi Asahina ◽  
Hiroyuki Moriuchi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Therapeutic Potential ◽  
Giant Cells ◽  
Efficacy And Safety ◽  
Autosomal Dominant Disorder ◽  
Osteolytic Lesions ◽  
Case Presentation ◽  
Childhood Growth ◽  
Receptor Activator ◽  
Denosumab Treatment

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

PLEXIFORM NEUROFIBROMA OF THE BRACHIAL PLEXUS – A RARE CASE REPORT

2021 ◽  
pp. 13-15
Author(s):  
Surya Rao Rao Venkata Mahipathy ◽  
Alagar Raja Durairaj ◽  
Narayanamurthy Sundaramurthy ◽  
Anand Prasath Jayachandiran ◽  
Suresh Rajendran
Keyword(s):  
Brachial Plexus ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Plexiform Neurofibroma ◽  
Autosomal Dominant Disorder ◽  
Surgical Debulking ◽  
Rare Case Report ◽  
Benign Tumours ◽  
Common Benign Tumour

Neurobroma is a common benign tumour occurring as part of an autosomal dominant disorder, neurobromatosis type 1, leading to the formation of benign tumours or neurobromas of the peripheral nervous system. Large neurobromas of the brachial plexus are rare and present a difcult challenge for surgeon due to the anatomical complexity of the brachial plexus. Dermal neurobromas usually present with swelling and occasional pain, but neurobromas associated with the brachial plexus present with pain and neurological symptoms. These plexiform neurobromas of the brachial plexus are known to undergo malignant transformation. Here, we present a case of a large plexiform neurobroma affecting the left brachial plexus and extending till the elbow, conrmed with MRI and surgical debulking was done.

Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

scholarly journals Neurofibromatosis

2014 ◽  
Vol 34 (1) ◽  
pp. 81-82
Author(s):  
D Sharma ◽  
S Murki ◽  
V Madhavi
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Autosomal Dominant ◽  
Nerve Tissue ◽  
Autosomal Dominant Disorder ◽  
Café Au Lait Spots

Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop(1). We report a baby who was admitted with us in view of prematurity (34 weeks gestation ) and low birth weight (1.32 Kg). Baby’s  mother was antenatally diagnosed with NF 1(figure no 1,2). Baby had multiple café au lait spots all over the bodies (figure no 3,4). Baby was discharged from nursery in well condition.DOI: http://dx.doi.org/10.3126/jnps.v34i1.8535 J Nepal Paediatr Soc 2014;34(1):81-82 

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

scholarly journals Acne:Clinico-Epidemiological Study In DermatologyVenereology Outpatient Clinic Of Dr. M. Djamil Hospital Padang During January 2016 – December 2018

2020 ◽  
Vol 13 (4) ◽  
pp. 325-328
Author(s):  
Satya Wydya Yenny
Keyword(s):  
Retrospective Study ◽  
Family History ◽  
Epidemiological Study ◽  
Clinical Features ◽  
Outpatient Clinic ◽  
Medical Records ◽  
Skin Disorder ◽  
Epidemiological Data ◽  
Common Type ◽  
History Of

Although acne is usually recognized as an adolescent skin disorder, the prevalence of adults with acne is increasing. The clinical and epidemiological data of acne were evaluated with a view to establishing possible contributing etiological factors and observing whether clinical features differ from adolescent acne. Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018.Retrospective study performed in Medical Cosmetic Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018. Data was taken from medical records. Out of 224 patients included in the study 54.01% were women and 45.98 % were men. Majority of the patients had comedonal acne (45.53 %), whereas nodulocystic was the least common (13.39%). Most common predominant site of involvement was cheek (44.20 %), followed by chin (25.45 %), and mandibular area (14.58 %). Family history of acne was present in 57.70 %. Scarring was observed in a 39.2 %. Acne is predominant in women, with the most commonly involved of the cheeks, with the most common type was comedones type.

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