Results 41 to 50 of about 748 (171)
Reconstruction of Unilateral Incomplete Cryptophthalmos in Fraser Syndrome [PDF]
, 2017 A full-term baby girl with Fraser syndrome was born with right incomplete cryptophthalmos. On examination, the globe was completely covered with skin with partially formed eyelids laterally.
Ann Q. Tran +9 more
core +1 more source
Bilateral orbito-palpebral cysts in a case of cryptophthalmos associated with Fraser syndrome [PDF]
, 2008 A 15-month-old girl was referred for evaluation of congenital absence of both eyelids. Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial ...
MOCAN, MEHMET CEM +2 more
core +1 more source
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. [PDF]
PLoS ONE, 2013 The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems.
Tyler F Beck +10 more
doaj +1 more source
Case Reports in Ophthalmological Medicine, Volume 2019, Issue 1, 2019., 2019 Purpose. Posterior microphthalmia is a sporadic or inherited developmental ocular anomaly that may occur isolated or in association with multiple ocular and systemic anomalies. This report documents a case of posterior microphthalmia with atypical presentation including white dots in the posterior pole in addition to systemic anomalies including facial
Nasser G. Alsaedi +2 more
wiley +1 more source
Tracheal Agenesis: A Challenging Prenatal Diagnosis—Contribution of Fetal MRI
Case Reports in Obstetrics and Gynecology, Volume 2015, Issue 1, 2015., 2015 Tracheal agenesis is a rare congenital anomaly. The prevalence is less than 1 : 50 000 with a male to female ratio of 2 : 1. This anomaly may be isolated but, in 93% of cases, it is part of polymalformative syndrome. The most evocative diagnosis situation is the ultrasonographic congenital high airway obstruction syndrome.
Charline Bertholdt +4 more
wiley +1 more source
Fraser syndrome and cryptophthalmos; a case report [PDF]
, 2007 Objective: Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies.
poor, A Mohamadi, Khalesi, N, Salehi, F
core +2 more sources
Cryptophthalmos: surgical treatment of the congenital symblepharon variant. [PDF]
British Journal of Ophthalmology, 1986 A case of the congenital symblepharon variant of cryptophthalmos is reported. Surgical treatment is described. The ophthalmic features of cryptophthalmos and its systemic associations are reviewed.
D J, Brazier +2 more
openaire +2 more sources
Case Reports in Obstetrics and Gynecology, Volume 2013, Issue 1, 2013., 2013 Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options.
Burcu Artunc Ulkumen +8 more
wiley +1 more source
Bilateral cryptophthalmos (ablepharon)
Indian Journal of Ophthalmology, 1966 Ishwarchandra, Mulak J
doaj +1 more source
Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?
International Journal of Nephrology, Volume 2012, Issue 1, 2012., 2012 Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end‐stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life.
Ihor V. Yosypiv, Paul Goodyer
wiley +1 more source