Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

29 August 2008

Demirhan sydrome, a new sydrome: Fibular agenesis, cleft palate, absence of multiple permanent teeth and labial hypoplasia

Osman Demirhan, Neslihan Önenli Mungan, Serdar Toroğlu, Figen Binokay, Deniz Taştemir, Hüseyin A. Solğun

Am J Case Rep 2008; 9:359-363 :: ID: 867883

Abstract

Background: There are some syndromes described in the literature with agenesis of fibulae and tibia, but to the best of our knowledge, our case is the first one defined with f bular agenesis, and tibial bowing without involvement of femur or upper extremity deformities and teeth abnormalities.
Case Report: We report a twelve years old girl, who had severe growth retardation, major lower extremity abnormalities, torticollis, flat face, hypertelorism, thin upper lip, displaced teeth, cleft palate, and labial hypoplasia. Chromosome analysis was performed. Her karyotype was normal female (46,XX) and no chromosomal abnormality was detected.
Conclusions: The clinical findings of this case is not in accordance with any known syndrome. It is a new syndrome according to our opinion.

Keywords: Fibular agenesis, Cleft Palate, Absence of multiple permanent teeth, Labial hypoplasia, Cytogenetics

Add Comment 0 Comments

In Press

12 Feb 2024 : Case report  USA

Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PET

Am J Case Rep In Press; DOI: 10.12659/AJCR.941169  

0:00

12 Feb 2024 : Case report  USA

Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.942839  

13 Feb 2024 : Case report  Bahrain

Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel Hematoma

Am J Case Rep In Press; DOI: 10.12659/AJCR.943519  

13 Feb 2024 : Case report  Portugal

Hemorrhagic Presentation in Primary Central Nervous System Lymphoma: A Case Study

Am J Case Rep In Press; DOI: 10.12659/AJCR.942951  

Most Viewed Current Articles

07 Mar 2024 : Case report  USA

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923