Literature DB >> 28209013

Identifying Aarskog Syndrome.

Anis Ahmed1, Abdullah Mufeed2, Ashir Kolikkal Ramachamparambathu3, Umer Hasoon4.   

Abstract

Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised.

Entities:  

Keywords:  Aarskog-Scott syndrome; Facial anomalies; Genital anomalies

Year:  2016        PMID: 28209013      PMCID: PMC5296586          DOI: 10.7860/JCDR/2016/22180.8982

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  13 in total

1.  Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management.

Authors:  S Mahmoud Nouraei; Asif Hasan; Milind P Chaudhari; Joel Dunning
Journal:  Interact Cardiovasc Thorac Surg       Date:  2004-12-17

2.  Atypical case of Aarskog syndrome.

Authors:  R V Mikelsaar; I W Lurie
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

3.  Female counterpart of shawl scrotum in Aarskog-Scott syndrome.

Authors:  Suzana G Moraes; G Guerra-Junior; A T Maciel-Guerra
Journal:  Int Braz J Urol       Date:  2006 Jul-Aug       Impact factor: 1.541

4.  Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).

Authors:  J L Gorski; L Estrada; C Hu; Z Liu
Journal:  Dev Dyn       Date:  2000-08       Impact factor: 3.780

5.  Metatarsus adductus in two brothers with Aarskog syndrome.

Authors:  D L Hurst
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

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Authors:  C Berry; J Cree; T Mann
Journal:  Arch Dis Child       Date:  1980-09       Impact factor: 3.791

7.  Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.

Authors:  A Orrico; L Galli; M G Obregon; M F de Castro Perez; M Falciani; V Sorrentino
Journal:  Am J Med Genet A       Date:  2007-01-01       Impact factor: 2.802

8.  Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Authors:  A Orrico; L Galli; L Faivre; J Clayton-Smith; S M Azzarello-Burri; J M Hertz; S Jacquemont; R Taurisano; I Arroyo Carrera; E Tarantino; K Devriendt; D Melis; T Thelle; U Meinhardt; V Sorrentino
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

9.  Mania with Aarskog-Scott syndrome.

Authors:  Raghavendra B Nayak; L Ambika; G S Bhogale; A Pandurangi
Journal:  Indian Pediatr       Date:  2012-04       Impact factor: 1.411

10.  New autosomal recessive faciodigitogenital syndrome.

Authors:  A S Teebi; K K Naguib; S Al-Awadi; Q A Al-Saleh
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

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  3 in total

Review 1.  KBG syndrome.

Authors:  Dayna Morel Swols; Joseph Foster; Mustafa Tekin
Journal:  Orphanet J Rare Dis       Date:  2017-12-19       Impact factor: 4.123

Review 2.  Interstitial Lung Disease in Rare Congenital Syndromes.

Authors:  Aleksandra Jezela-Stanek
Journal:  J Mother Child       Date:  2020-07-29

3.  Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding.

Authors:  Divya Gahlot; Munisha Aggarwal
Journal:  Saudi J Anaesth       Date:  2021-04-01
  3 in total

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