Results 51 to 60 of about 8,039 (258)
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock +5 more
wiley +1 more source
Arthrogryposis with cystic hygroma: A case report
Middle East Fertility Society Journal, 2012 Arthrogryposis, or arthrogryposis multiplex congenita (AMC), comprises non progressive conditions characterized by multiple joint contractures found throughout the body .Cystic hygroma are caused by a delay or absence of the communication between the ...
Mohammed Khairy Ali +2 more
doaj +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
Case Reports in Pediatrics, 2016 Up to 75% of lymphatic malformations occur in the head and neck region. Of these, cystic hygromas and lymphangiomas have been widely reported; however they rarely occur in the same patient.
A. N. Beech, J. N. Farrier
doaj +1 more source
Huge Neck Masses Causing Respiratory Distress in Neonates: Two Cases of Congenital Cervical Teratoma
Pediatrics and Neonatology, 2016 Congenital cervical teratomas are rare and usually large enough to cause respiratory distress in the neonatal period. We present two cases of congenital huge cystic neck masses in which distinguishing cervical cystic hygroma and congenital cystic ...
Hasan Özkan Gezer +4 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust +15 more
wiley +1 more source
انجام بيهوشی عمومی در شيرخوار 8 ماهه با توده وسيع ناحيه قدام گردن [PDF]
, 2014 اهداف و زمينه : هيگروم کيستيک يک ناهنجاری مادرزادی سيستم لنفاوی می باشد که در آن انسداد در مسير لنفاوی و وريدی سبب تجمع مايع لنفاوی در ساک لنفاوی ژوگولر می گردد.
اسپهبدی, ابراهیم
core
Clinical and genetic aspects of Turner’s syndrome [PDF]
, 2016 Turner’s syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline.
Ibarra Ramírez, Marisol +1 more
core +1 more source
CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin +12 more
wiley +1 more source