Results 101 to 110 of about 12,966 (238)
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
A very rare cause of intestinal atresia: Intrauterine intussusception due to Meckel's diverticulum
, 2003 Intrauterine intussusception is one of the rare causes of intestinal atresia. Conclusion: A case of ileal atresia due to intrauterine intussusception caused by Meckel's diverticulum is ...
core +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Jejunal web is a rare cause of late‐presenting intestinal obstruction in infancy. Its association with ileo‐ileal intussusception is exceptionally uncommon. A high index of suspicion and thorough intra‐operative bowel assessment are essential for diagnosis and optimal surgical management.
Rajabu Athumani Bakari +5 more
wiley +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Pregnancy, Volume 2, Issue 4, July 2026.Abstract Background The optimal timing and indication for delivery in gastroschisis remain subjects of ongoing debate. This study evaluates clinical characteristics and postnatal outcomes associated with varying indications for delivery in this population.
Nikan Zargarzadeh +6 more
wiley +1 more source
PROTEOMICS – Clinical Applications, Volume 20, Issue 4, July 2026.ABSTRACT Background and aims Non‐alcoholic Fatty Liver Disease (NAFLD) affects about a quarter of the world's population. Liver biopsy remains the gold standard for diagnosing the progressive form of NAFLD called Non‐alcoholic Steatohepatitis (NASH) but it is invasive, prone to sampling errors and observer variability, and impractical for widespread ...
Anna Negroni +5 more
wiley +1 more source
BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 8, Page 1539-1546, July 2026.Abstract Objective To assess acute and long‐term stress in men and women after the detection of fetal anomalies leading to pregnancy termination. Design Prospective observational study. Setting Tertiary referral centre for fetal medicine. Population From the initial sample of 180 pregnant women with a fetal anomaly detected by ultrasound examination, a
Mona Bekkhus +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
014. Localized Meconium Peritonitis Due to Perforation of Ileum Atresia: Case Report
JBN (Jurnal Bedah Nasional)Background: Ileal atresia is a congenital disorder that can cause serious complications such as intestinal obstruction, intestinal ischemia, and intestinal rupture.
Gina Amalia, Avriana Pety Wardhani
doaj +1 more source