Results 181 to 190 of about 1,899,712 (390)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Congenital Tuberculosis

, 1952
J. F. Horley
openalex   +1 more source

CONGENITAL INTESTINAL OBSTRUCTION [PDF]

, 1915
Vernon Rowland
openalex   +1 more source

Congenital leptin deficiency is associated with severe early-onset obesity in humans

Nature, 1997
C. Montague, I. Farooqi, J. Whitehead, M. Soos, H. Rau, N. Wareham, C. Sewter, J. Digby, S. Mohammed, J. Hurst, C. Cheetham, Alison R. Earley#, A. Barnett, J. Prins, S. O’Rahilly   +14 more
semanticscholar   +1 more source

Congenital Dislocation of the Hip Joint [PDF]

, 1900
E. H. BRADFORD
openalex   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Spontaneous Resolution of Hemolysis After Ventricular Septal Defect Closure With an Amplatzer Device

Clinical Case Reports
A wait and see approach can be maintained in cases with mechanical hemolysis after percutaneous VSD closure, even when the cause is not homogeneous.
Christophe Popelier, Pieter De Meester, Werner Budts   +2 more
doaj   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

THE RESULT FIVE YEARS AFTER EXCISION OF THE HUMERAL HEAD FOR CONGENITAL SUBACROMIAL DISLOCATION OF THE HUMERUS [PDF]

, 1909
Gwilym George Davis
openalex   +1 more source