نتایج جستجو برای: hypertelorism

تعداد نتایج: 501  

Journal: :JPMA. The Journal of the Pakistan Medical Association 2013
Serafettin Demir Zeynep Karakaya Serkan Sagay

The LEOPARD syndrome is a rare hereditary disorder in Asian countries. This syndrome involves complex malformations and other features. Though the LEOPARD syndrome is rare, diagnosis is important since it can be related with serious cardiac ailments. Patients must be followed up regularly in order to reduce the risk of sudden death which is the most severe complication. The study presents the c...

2005
Byung-Jun Yoon P. P. Vaidyanathan

During the last decade, a number of evidences have been found that non-coding RNAs (ncRNA) are involved in various important processes. Many of these ncRNAs are known to conserve their secondary structure, which gives rise to complex dependencies between distant bases in the primary sequence. Therefore, we need more complex models than the traditional HMM in order to analyze ncRNAs. Recently, c...

Journal: :Palliative & supportive care 2018
Daisuke Yasugi Hidetaka Tamune Jitsuki Sawamura Katsuji Nishimura

The academic degrees for authors Yasugi and Sawamura are incorrect in the published article. The proper byline should read as follows: DAISUKE YASUGI, M.D., HIDETAKA TAMUNE, M.D., JITSUKI SAWAMURA, M.D., PH.D, AND KATSUJI NISHIMURA, M.D., PH.D. In addition, the following correction should also be noted: In Figure 1, the word “Psychiatrists” is missing in the Yaxis label and categories are missi...

Journal: :Journal of medical genetics 1991
R Pallotta

A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

2018
Kyehwan Kim Min Gyu Kang Hyun Woong Park Jin-Sin Koh Jeong Rang Park Seok-Jae Hwang Jin-Yong Hwang

A 40-year-old man presented with palpitation for 2 days. His past medical history was unremarkable. Physical examination revealed that multiple lentigines of 5 mm to 15 mm that were black-brown in color, macule, flat, and scattered on the face, neck, trunk, and on both hands (Fig. 1A). Hypertelorism was found but there were no evidences of deafness, genital anomaly, and other dysmorphic feature...

2013
Chang Shu Ling He Qubei Li Qiao Wang Ying Huang

Our patient had an anterior encephalocele accompanied by teratoma. According to our extensive literature review, this association was very rarely reported so far[2,4]. Several hypotheses had been suggested to describe the pathogenesis of encephaloceles or teratomas but association of two entities cannot be simply explained by these models. Enrolment of tissue induction through different steps o...

افشار, محمد,

I ABSTRACT Phenobarbital is a drug of barbiturates class that it’s Anticonvulsant and sedative effects has been caused it’s widely. Usage in nervous system diseases espicially epilepsy. The epileptic pregnant women who taking this dr...

ژورنال: یافته 2012
طرهانی, فریبا, دالوند, شبنم , طائی , نادره ,

Background : Hemifacial microsomia or Goldenhar syndrome is a congenital abnormality that it's main features are an one-sided under development of ear (or Artesia), jaw and neck. This syndrome is associated with additional anomalies and from view point of phenotype is highly variable. Case Report: The case was a one day old girl born to a 30 years old woman by normal vaginal delivery. Conge...

A Rahnema A.H Amooei

Congenital tumors of the oral cavity are not common.Teratoids are the most common tumors, and in rare cases are associated with cleft soft palate. In this paper a rare case of Epignathus with cleft soft palate, bifida tongue, jaw malocclusion, tongue lipoma, Hypertelorism and low-set ears has been presented. A female infant with a large mass covered with skin and hair arising from hard palate, ...

انصار, اکرم, فرشچیان, محمود, فریدون نژاد, مرتضی,

Introduction: Nevoid BCC syndrome (Gorline syndrome) is a familial disorder with autosomal dominant inheritense. This syndrome is combination of multiple BCC that occurs at an early age, characteristic faces with: frontal bossing, broad nasal bridge and hypertelorism, jaw cysts, palmoplanter pitting, macrocephaly, skeletal and spinal anomalies include bifid ribes, cervical rib and kyphoscoliosi...

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