scholarly journals Apert Syndrome: A Rare Genetic Disorder

2021 ◽  
Vol 11 (2) ◽  
pp. 475-477
Author(s):  
Mahmuda Hassan ◽  
B H Nazma Yasmeen ◽  
Masuma Khan ◽  
Afsana Mukti
Keyword(s):  
Genetic Disorder ◽  
The Body ◽  
Apert Syndrome ◽  
Type I ◽  
Fibroblast Growth Factor Receptors ◽  
Rare Type ◽  
Medical College ◽  
Branchial Arches ◽  
Maxilla And Mandible ◽  
Hands And Feet

Apert syndrome is a rare type I acrocephalosyndactyly syndrome having autosomal dominant inheritance due to mutations in the fibroblast growth factor receptors gene. New or fresh mutations are also frequent. It is characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet. Apert syndrome affects the first branchial or pharyngeal arch, the precursor of the maxilla and mandible. Disturbances in the development of branchial arches during fetal period create extensive malformation in different parts of the body. Management of Apert syndrome requires a multidisciplinary approach. We, hereby, report a case of a 45-days old baby with Apert syndrome. Northern International Medical College Journal Vol.11 (2) Jan 2020: 475-477

scholarly journals A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

2020 ◽  
Vol 3 (11) ◽  
pp. 352-354
Author(s):  
Pooja Gaur
Keyword(s):  
Case Report ◽  
Clinical Care ◽  
Open Bite ◽  
Apert Syndrome ◽  
Facial Features ◽  
Type I ◽  
Anterior Open Bite ◽  
Rare Type ◽  
Patient Reported ◽  
Hands And Feet

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

scholarly journals Hemifacial Microsomia (HFM) and Treacher Collins Syndrome

2021 ◽  
pp. 1769-1812
Author(s):  
Manikandhan Ramanathan
Keyword(s):  
The Body ◽  
Treacher Collins Syndrome ◽  
Abnormal Development ◽  
Hemifacial Microsomia ◽  
Dentofacial Deformities ◽  
Dentofacial Deformity ◽  
Branchial Arches ◽  
Assessment And Treatment ◽  
Maxilla And Mandible ◽  
Parental Counselling

AbstractHemifacial microsomia and Treacher Collins syndrome are two entities which arise as a consequence of abnormal development of first and second branchial arches in utero. As a result, these dentofacial deformities present with abnormal facies especially the maxilla and mandible. They may also occur as part of other syndromes and may involve other structures of the body. In this chapter, we have discussed the etiology, clinical features, radiological assessment and treatment planning of such cases. Special emphasis should be made on early diagnosis, challenges of airway management and feeding and parental counselling. Since the two deformities are largely considered to be non-progressive, early distraction plays an important role in correction of the dentofacial deformity in these patients.

scholarly journals Apert syndrome: A dermatologist’s perspective

2021 ◽  
Vol 1 ◽  
pp. 66
Author(s):  
Nidhi Kamra ◽  
Ankita Tuknayat
Keyword(s):  
Clinical Features ◽  
Literature Search ◽  
The Body ◽  
Apert Syndrome ◽  
Rare Entity ◽  
Electronic Database ◽  
Craniofacial Malformations ◽  
Hands And Feet

Apert syndrome is a Type 1 acrocephalosyndactyly syndrome presenting predominantly with craniofacial malformations and syndactyly. It can present with a multitude of clinical features involving any system of the body. A literature search of the PubMed electronic database was performed using the keywords “Apert syndrome” and “dermatology” in the title. The relevant references of the included articles were traced and included. A total of 27 articles appeared, the abstracts of which were screened and reviewed by both the authors independently for inclusion. After carefully analyzing all papers case by case, 21 such cases were retrieved. Cases presenting with other clinical features apart from dermatological features were also reviewed but were not included in the table. A total of about 30 patients of Apert syndrome have been described in dermatological literature, acne being the most common dermatological manifestation. Predominant clinical features in all the cases were brachycephaly due to craniosynostosis and syndactyly of hands and feet. Most of the patients had skeletal, dental, gastrointestinal, genitourinary, respiratory, cardiovascular, and dermatological manifestations in varying proportions. Apert syndrome is a rare entity which can present to a dermatologist. It is, therefore, pertinent to be able to diagnose and recognize the various clinical features of this syndrome to ensure timely management of such patients.

scholarly journals The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator

2019 ◽  
Vol 39 (8) ◽  
Author(s):  
Hui Lin ◽  
Fuli Shi ◽  
Jiayu Gao ◽  
Ping Hua
Keyword(s):  
Signaling Pathway ◽  
Genetic Disorder ◽  
Activin A ◽  
Bmp Signaling ◽  
The Body ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Type I ◽  
Heterotopic Bone ◽  
Heterotopic Bone Formation

Abstract Heterotopic ossification (HO) is the aberrant formation of mature, lamellar bone in nonosseous tissue. Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disorder that causes progressive HO in the ligaments, tendons, and muscles throughout the body. FOP is attributed to an autosomal mutation in activin receptor-like kinase 2 (ALK2), a bone morphogenetic protein (BMP) type I receptor. Initial studies show that mutant ALK2 drives HO by constitutively activating the BMP signaling pathway. Recently, mutant ALK2 has been shown to transduce Smad1/5 signaling and enhance chondrogenesis, calcification in response to Activin A, which normally signals through Smad2/3 and inhibits BMP signaling pathway. Furthermore, Activin A induces heterotopic bone formation via mutant ALK2, while inhibition of Activin A blocks spontaneous and trauma-induced HO. In this manuscript, we describe the molecular mechanism of the causative gene ALK2 in FOP, mainly focusing on the prominent role of Activin A in HO. It reveals a potential strategy for prevention and treatment of FOP by inhibition of Activin A. Further studies are needed to explore the cellular and molecular mechanisms of Activin A in FOP in more detail.

scholarly journals Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

2016 ◽  
Vol 150 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Vy Dang ◽  
Abhilasha Surampalli ◽  
Ann M. Manzardo ◽  
Stephanie Youn ◽  
Merlin G. Butler ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosome Region ◽  
Genetic Disorder ◽  
Type I ◽  
Prader Willi Syndrome ◽  
Stk11 Gene ◽  
Feeding Difficulties ◽  
First Case ◽  
Increased Risk ◽  
Hands And Feet

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene.

scholarly journals Computed tomography assessment of Apert syndrome

2004 ◽  
Vol 18 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Marco Antônio Portela Albuquerque ◽  
Marcelo Gusmão Paraíso Cavalcanti
Keyword(s):  
Computed Tomography ◽  
Three Dimensional ◽  
Helical Ct ◽  
Apert Syndrome ◽  
Type I ◽  
Midface Hypoplasia ◽  
Developmental Disturbances ◽  
Coronal Synostosis ◽  
Hands And Feet ◽  
Computed Tomograph

Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome. As part of the craniofacial assessment of the imaging center's routine, all patients underwent clinical evaluation and CT (computed tomograph) exam. Three-dimensional images were generated from helical CT scans, using an independent workstation, to evaluate the craniofacial abnormalities of the syndrome. Clinical exam determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were features observed in all of the Apert patients. 3D-CT showed that some abnormalities such as bilateral coronal synostosis, calvarial midline defect and reduction in the antero-posterior dimension of the anterior, medial and posterior cranial fossae were present in all cases. In conclusion, the correlation of clinical and CT imaging findings can be useful to assess the main features observed in Apert patients, improving the criteria for examining the patient and diagnosing this condition, and contributing to the therapeutic planning and surgical follow-up.

scholarly journals Apert syndrom: a literature review and own clinical case

2020 ◽  
pp. 55-58
Author(s):  
V.M. Husiev ◽  
◽  
D.S. Khapchenkova ◽  
V.E. Kleban ◽  
◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Proximal Phalanx ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Apert Syndrome ◽  
Type I ◽  
Hands And Feet ◽  
Type V

Acrocephalosyndactyly (ACS) is a group of multiple malformations, the main clinical manifestations of which are acrocephaly and syndactyly. The most common forms are Apert (type I), Pfeiffer (type V), Setra–Hotzen (type II) syndromes. Apert syndrome is the most explored and common form of all types of ACS and Apert syndrome is estimated to occur in 1 in: 100 000 newborns. The syndrome is inherited in an autosomal dominant manner. If the gene is carried by one of the parents, the risk of having a child with Apert syndrome is 50%. The syndrome genome (FGFR2) is located on the long arm of chromosome 10 at locus 10q26. Apert syndrome occurs due to mutations at this locus, but the children karyotype is not changed. The pathognomonic clinical signs of Apert syndrome are craniofacial dysostosis and symmetrical syndactyly of the hands and feet. Acrocephaly («tower skull») — is a consequence of early synostosis of some sutures of the skull. Orbital hypertelorism and exophthalmos are referred to typical facial changes. Among other abnormalities there are heart and vascular defects (25%), cleft palate, malformations of the gastrointestinal tract and kidneys. The diagnosis is made on the basis of clinical symptoms. No treatment has been developed. Life expectancy is short. Purpose — to present a clinical case of a newborn with Apert syndrome. Clinical case. Apert syndrome was suspected prenatally, confirmed after birth. The newborn girl had the characteristic signs of the above-described pathology: «tower head», hypertelorism, saddle bridge of the nose, closed large fontanelle, phalanges of the first finger were wide, the proximal phalanx was triangular, complete cutaneous syndactyly of the II–IV fingers was observed symmetrical on both upper extremities; on the lower extremities — thickening of the proximal phalanges of the big toes, complete cutaneous syndactyly of the II–IV toes. Conclusions. The article describes a clinical case of a child with Apert syndrome. Prenatal diagnosis takes one of the leading places in confirming genetic abnormalities, determining the prognosis for life. Genetic counseling for parents is necessary and important at all stages of pregnancy planning. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Apert syndrome, children, prenatal diagnosis.

scholarly journals Seckel Syndrome & Skull Morphology: Quantifying Characteristics

2021 ◽  
pp. 202
Author(s):  
Keyword(s):  
Morphological Changes ◽  
Genetic Disorder ◽  
The Body ◽  
Facial Features ◽  
Type I ◽  
Skull Morphology ◽  
Variable Effect ◽  
Anatomical Structures ◽  
Seckel Syndrome ◽  
Proper Diagnosis

Seckel Syndrome is a rare genetic disorder which causes morphological changes throughout the body. Some of the most commonly reported changes are those present within the cranium and mandible such as microcephaly, a beak-like nose with convex nasal ridge, and mandibular deformities such as micrognathia. However, these clinical terms provide insufficient information to allow for proper diagnosis or to understand the distortions in physiology that take place with the disease. Therefore, quantification of the features of the skull are necessary to further explain this pathology, and comparisons to normal variation will help to understand the degree to which the anatomy is affected. Seckel Syndrome is classified as a member of the microcephaly family of pathologies; however, our results demonstrate that the overall volume of the skull is not as significantly decreased as the cranial vault itself, which may provide the catalyst for Chiari Type I malformations. The mandible, likewise, is severely altered by Seckel Syndrome decreases in approximately 44% of its volume and demonstrating altered physical proportions. Finally, the osteological measurements of the facial features demonstrated inconsistent findings between different anatomical structures providing evidence that Seckel Syndrome may have a variable effect on the different bones and tissues of the skull.

scholarly journals Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)

2018 ◽  
Vol 9 (3) ◽  
pp. 225-230
Author(s):  
Krishna Santoshi M ◽  
Krishnaiah N
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Treatment Modalities ◽  
Smn1 Gene ◽  
Hands And Feet ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in autosomal recessive pattern due to absence of SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, SMA can be considered as a type of janma jaata Vata vikara as it has been mentioned that: “Tatra va gati gandhanayoriti vata” that means all the movements of the body are controlled by vata. In Vata vyadhi Lakshanas, few symptoms like Anganam sosha (Atrophy or emaciation of limbs), Sankocha (Contraction), Kanja, Pangulya, Kubjatva (Lameness of hands and feet, hunch-back and shortness), are considered, few of which are also observed in the Spinal Muscular Atrophy. A 2yrs female patient was admitted in our I.P.D who was a known case of SMA II presented with complaints of inability in sitting for longer time without support, unable to stand and walk even with support. Through Ayurvedic principles we have treated adopting various vata hara treatment modalities & also with few palliative treatments as per the need in view of enhancing the quality living.  

scholarly journals Posterior Neck Gigantic Plexiform Neurofibromatosis

2018 ◽  
Vol 2 (4) ◽  
pp. 236
Author(s):  
Che Mohd Hilmi Che Mat ◽  
Khairun ‘Abid Suhairi ◽  
Mohamad Ariff Hafizi ◽  
Hasme Zam Hashim ◽  
Norhaizam Md Nor ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Type I ◽  
Cutaneous Lesions ◽  
Neural Tissues ◽  
Plexiform Neurofibromatosis ◽  
Posterior Neck

Neurofibromatosis (NF) is one of the most common genetic disorders. It is an autosomal dominant genetic disorder. It primarily affects the neural tissues. Neurofibromatosis type I (NF-1) also known as well as Recklinghausen’s disease is the most common type. We present a case of a 62-year-old lady with NF-1. The disease was apparent since childhood with appearance of multiple hyper-pigmented skin macules. With time, more cutaneous lesions appeared and grew bigger all over the body surface. Because of huge neurofibromatosis over posterior neck, patient came for further treatment.International Journal of Human and Health Sciences Vol. 02 No. 04 October’18. Page : 236-238

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