Endocrine abnormalities in two siblings with Rothmund Thomson Syndrome
Published on: 11th October, 2018
OCLC Number/Unique Identifier: 7906107605
Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease. Two siblings with Rothmund-Thomson Syndrome showed the following characteristic features: severe growth failure, dystrophic nails, absent eyelashes/eyebrows, small hands, clinodactyly, microdontia and congential poikiloderma. In addition, delayed sexual development with cryptorchidism in the male and Hashimato thyroiditis in the female patient were detected. These cases are presented here because of these endocrine patterns, with the aim of drawing attention to the invisible aspects of Rothmund-Thomson syndrome.
Blog Section
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
- Biofilm
- RT-PCR
- Alazami syndrome
- Essuki
- Lighvan cheese
- Bisphosphonate-Related Osteonecrosis of the Jaw (BRONJ)
- Obesity
- Diabetes mellitus
- Thyroid
- Liver metastases
- Hemoglobinuria
- Panic/hypochondria
- Climate change
- Cardiovascular imaging
- RMGIC
- BPH
- Orbital floor fracture
- Crossbite
- Police
- Chemotherapeutic drugs
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testimonials
We really appreciate and thanks the full waiver you provide for our article. We happy to publish our paper in your journal. Thank you very much for your good support and services.
Ali Abusafia
Your services are very good
Chukwuka Ireju Onyinye
In my opinion, you provide a very fast and practical service.
Ahmet Eroglu
Your service is very good and fast reply, Also your service understand our situation and support us to publication our articles.
Palestine College of Nursing, Khan Younis, Gaza St...
Ayman M Abu Mustafa
I really liked the ease of submitting my manuscript in the HSPI journal. Further, the peer review was timely completed and I was communicated the final decision on my manuscript within 10 days of subm...
Abu Bashar
Your service is very good and fast reply, also your service understand our situation and support us to publication our articles.
Ayman M Abu Mustafa
In 2017, I submitted a manuscript to the journal Archives of Biotechnology and Biomedicine belonging to Heighten Science Publications Corporation. Within one week I already received the response from ...
University of Tubingen, Germany
Yvonne Mast
Thank you very much. I think the review process and all of what concerns the administration of the publication concerning our paper has been excellent. The nice and quick answers have been very good I...
Doris Nilsson
The service from the journal staff has been excellent.
Andy Smith
We appreciate your approach to scholars and will encourage you to collaborate with your organization, which includes interesting and different medical journals. With the best wishes of success, creat...
Ivano- Frankivsk National Medical University, Ukra...