P.025 Monobloc distraction in an Apert syndrome – a case report

2008 ◽  
Vol 36 ◽  
pp. S175
Author(s):  
S. Ferreira ◽  
J.P. Marcelino ◽  
A. Correia ◽  
R. Nunes ◽  
S. Bitoque ◽  
...  
Keyword(s):  
Case Report ◽  
Apert Syndrome

Ultrasound Detection of Apert Syndrome: A Case Report and Literature Review

1997 ◽  
Vol 14 (07) ◽  
pp. 427-430 ◽  
Author(s):  
Kathryn Kaufmann ◽  
Shari Baldinger ◽  
Leslie Pratt
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Apert Syndrome

scholarly journals Apert Syndrome: A Case Report and Review of Literature

2016 ◽  
Vol 06 (02) ◽  
pp. 175-184 ◽  
Author(s):  
Simon Pius ◽  
Halima Abubakar Ibrahim ◽  
Mustapha Bello ◽  
Kefas Mbaya ◽  
Jose Pwavimbo Ambe
Keyword(s):  
Case Report ◽  
Apert Syndrome ◽  
Review Of Literature

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.

Apert syndrome: a case report and discussion

1999 ◽  
Vol 11 (4) ◽  
pp. 215-220 ◽  
Author(s):  
Melissa J Melott, O.D
Keyword(s):  
Case Report ◽  
Apert Syndrome

Internal carotid dissection after Le Fort III distraction in Apert syndrome: A case report

2010 ◽  
Vol 38 (7) ◽  
pp. 529-533 ◽  
Author(s):  
Erik Nout ◽  
Irene M.J. Mathijssen ◽  
Jacques J.N.M. van der Meulen ◽  
Marie-Lise C. van Veelen ◽  
Anton H.J. Koning ◽  
...  
Keyword(s):  
Case Report ◽  
Internal Carotid ◽  
Apert Syndrome ◽  
Carotid Dissection ◽  
Le Fort ◽  
Le Fort Iii

scholarly journals Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia

2021 ◽  
Vol 2 (2) ◽  
pp. 140-4
Author(s):  
Muhammad Pradhika Mapindra ◽  
Muhammad Pradhiki Mahindra
Keyword(s):  
Case Report ◽  
Growth Factor ◽  
Cleft Palate ◽  
Fibroblast Growth Factor ◽  
Clinical Features ◽  
Apert Syndrome ◽  
Fibroblast Growth Factor 2 ◽  
Fibroblast Growth ◽  
Nasogastric Feeding ◽  
Female Baby

Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally. Fibroblast Growth Factor 2 (FGFR2) is believed to hold a key role in the syndrome. Objectives: This case report is aiming to describe the information on a rare incidence of craniosynostosis syndromes on Indonesian infants. Case Illustration: One month old female baby was admitted to the hospital due to the breastfeeding difficulty caused by cleft palate. The patient was known to experience defects of face-head features and syndactyly since birth. This patient was observed and controlled to undergo nasogastric feeding until meet the appropriate age for surgical therapy. Discussion: Mutation of  Ser252Trp and Pro253Arg was found in the patient. Based on this finding, this case report may strengthen the statement about the correlation between Ser252Trp and cleft palate whereas Pro253Arg is linked with syndactyly in individuals with the syndrome. Conclusion:. This case may give beneficial information for clinicians when they receive a patient with the same clinical features. However, further investigation to know this syndrome still needs to be developed. Keywords: Apert Syndrome, FGFR2, palate cleft, Pro253Arg, Ser252Trp   Latar Belakang: Pasien dengan sindroma Apert memiliki fitur karakteristik berupa malformasi kepala dan wajah disertai syndactyly. Insidensi sindroma ini berkisar 1 per 65.000 kelahiran hidup secara global. Etiologi kelainan ini dikatikan dengna mutase pada Fibroblast Growth Factor 2 (FGFR2). Tujuan: Laporan kasus ini bertujuan untuk mendeskripsikan kejadian langka dari sindroma craniosynostosis pada bayi Indonesia. Ilustrasi Kasus: Bayi perempuan usia 1 bulan dibawa ke rumah sakit dengan masalah menyusui akibat palatoschizis. Pasien memiliki riwayat defek wajah dan kepala disertai syndactyly sejak lahir. Pasien ini kemudian diobservasi melalui diet per nasogastric tube sampai siap dilakukan terapi pembedahan. Pembahasan: Mutasi pada Ser252Trp dan Pro253Arg ditemukan pada pasien ini. Sehingga, laporan kasus ini mungkin memperkuat temuan mengenai korelasi Ser252Trp dan palatoschizis sedangkan Pro253Arg dikaitkan dengan syndactyly. Kesimpulan: Kasus ini mungkin dapat memberikan informasi tambahan sebagai referensi untuk klinisi ketika menerima pasien dengan gejala klinis serupa. Namun, studi terkait perlu diperdalam untuk mengetahui lebih jauh mengenai sindroma serupa. Kata Kunci: FGFR2, palatoschizis, Pro253Arg, Ser252Trp, sindroma Apert

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