A CASE OF RUBINSTEIN -TAYBI SYNDROME (RTS)

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

SAJEDI F.; KHOUSHABI K.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Medicine and Spiritual Cultivation Year:2004 | Volume:- | Issue:51 Page(s): 18-23

Download Full-Text

Persian Verion

View:

2,564

Download:

Cites:

Information Journal Paper

Title

A CASE OF RUBINSTEIN -TAYBI SYNDROME (RTS)

Author(s)

SAJEDI F. | KHOUSHABI K. | Issue Writer Certificate

Keywords

MENTAL RETARDATIONQ3

MAXILLAR HYPOPLASIA .Q4

HIGH ARCHED PALATEQ4

BROAD THUMBQ4

SPEECH DELAYQ4

Abstract

This syndrome was first described almost 40 years ago by Rubinstein and Taybi in seven children with BROAD THUMBs and toes, facial abnormalities (beaked nose, heavy eyebrows, long eyelashes, hypoplastic maxilla, and a narrow, high arched palate), joint laxity, hirsutism, microcephaly, and mental retardation. By 1996, more than 600 patients with this syndrome had been reported. The majority of cases are sporadic. In 25% of the cases, submicroscopic deletions in, and chromosomal study is normal. In 12 16P 13.3 is identified. Mutations have recently been identified in non- deleted RTS patients. One case is a 6- year- old girl that was presented to us due to a SPEECH DELAY. In physical examination, there are microcephaly, hypoplastic maxilla, high arched palate, talon cusps in teeth, beaked nose, a thin upper lip, heavy eyebrows, long eyelashes, joint (especially elbow) laxity, broad and angulated thumbs with flat nails, hirsutism, a stiff gait, and mental, motor, social and language retardation. Laboratory studies, including a brain C.T. scan, EEG, metabolic and chromosomal studies, and routine tests, were normal.

Cites

No record.

References

No record.

Cite

APA: Copy

SAJEDI, F., & KHOUSHABI, K.. (2004). A CASE OF RUBINSTEIN -TAYBI SYNDROME (RTS). TEB VA TAZKIEH, -(51), 18-23. SID. https://sid.ir/paper/34403/en

Vancouver: Copy

SAJEDI F., KHOUSHABI K.. A CASE OF RUBINSTEIN -TAYBI SYNDROME (RTS). TEB VA TAZKIEH[Internet]. 2004;-(51):18-23. Available from: https://sid.ir/paper/34403/en

IEEE: Copy

F. SAJEDI, and K. KHOUSHABI, “A CASE OF RUBINSTEIN -TAYBI SYNDROME (RTS),” TEB VA TAZKIEH, vol. -, no. 51, pp. 18–23, 2004, [Online]. Available: https://sid.ir/paper/34403/en

Related Journal Papers