نتایج جستجو برای: congenital eye malformation

تعداد نتایج: 282070  

Journal: :AJNR. American journal of neuroradiology 2004
Masaki Komiyama Tomoya Ishiguro Shouhei Kitano Hiroaki Sakamoto Hiroaki Nakamura

Dural sinus malformation is an extremely rare congenital cerebrovascular malformation. We report serial antenatal sonographic findings in two patients with dural sinus malformation. Sonography can reveal dural sinus malformation at 24 weeks' gestation. Correct and early diagnosis may help determine the appropriate place, timing, and mode of delivery, which may result in a better therapeutic cou...

Journal: :Archives of ophthalmology 2002
Frédéric Mouriaux Marie-Paule Leroy-Rattier Claude-Alain Maurage Françoise Guilbert Ian Cree Jean François Rouland

A child born of a full-term pregnancy had unilateral splitting of the anterior segment of the right eye associated with choristoma. No other craniofacial abnormalitieswere found. The globe was slightly increased in size but was normal in shape. The 2 corneas were separated by a choristoma. Pathological examination revealed splitting of the anterior segment with 2 corneas, 2 lenses, and 2 irides...

Journal: :Journal of cardiac critical care TSS 2021

Abstract Ebstein’s anomaly is a rare congenital malformation of the right ventricle and tricuspid valve which characterized by several features that can exhibit an infinite spectrum malformation. The abnormalities include: i) adherence leaflets to underlying myocardium (failure delamination); ii) anterior apical rotational displacement functional annulus (septal > posterior leaflet); iii) di...

2015
Mitsuyuki Nakata Shigetoshi Yoshida Takeshi Saito Keita Terui Tetsuya Mitsunaga Sachie Ohno Naoko Mise Satoru Oita Hideo Yoshida

INTRODUCTION Thoracoscopic lobectomy for congenital pulmonary airway malformation has been indicated from the neonatal period to adolescence. However, it is difficult to approach the pulmonary artery for lobectomy in congenital lung malformations with incomplete or absent interlobar fissures. Multidetector computed tomographic images and computed tomography pulmonary angiography gave us helpful...

Hassannejad Habib Rasi Abbas Tabaie Mehdi

Phakomatosis Pigmentovascularis (PPV) is a rare cutaneous congenital malformation syndrome, defined as simultaneous occurrence of congenital cutaneous vascular and pigmentary anomalies. As most of the reported cases are from Far East countries, especially Japan, we reported a case of PPV type IIa in an Iranian patient. This case was unusual because of the coexistence of unilateral extensive por...

Journal: :European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008
Serap Teber Taner Sezer Mehpare Kafali M Chiara Manzini Berrin Konuk Yüksel Mustafa Tekin Suat Fitöz Christopher A Walsh Gülhis Deda

Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more su...

Journal: :Kathmandu University medical journal 2007
B K Malla

arly intrauterine period during 3 8 weeks of gestation is the vital period of life for the normal development of organs and organ system or organogenesis. Congenital malformation or defects are structural, functional and metabolic disorders at birth and the exact cause of birth defects in 40-60% are unknown. However, factors like genetic, environmental, teratogenic and infectious agents play im...

2015
YABIN HAO XU HONG XINYAN ZHAO

Abernethy malformation is a rare congenital malformation defined by an extrahepatic portosystemic shunt. The majority of affected patients are young (<18 years of age) and experience various symptoms, including vomiting, jaundice, dyspnea and coma. The current study presents a case of Abernethy malformation in an asymptomatic adult male patient. The patient exhibited congenital absence of the p...

Journal: : 2023

The article deals with anorectal malformation, which is a congenital anomaly in animals. This malformation often combined other birth defects and requires comprehensive diagnosis patients. Congenital malformations of the gastrointestinal tract are quite rare. Carrying out complex diagnostics before each stage surgical treatment will allow to determine certain method technique correction save pa...

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