Results 191 to 200 of about 115,482 (301)

Stromme syndrome presenting with classic microcephaly and apple-peel intestinal atresia in a neonate: a genetically confirmed case report. [PDF]

Matern Health Neonatol Perinatol
Nawlakhe K, Bandiya P, Raghavendra P, Shivann N.   +3 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Congenital Type III Lip Sinus with Palatine Bone Cleft. [PDF]

J Indian Assoc Pediatr Surg
Kumari R, Gautam G, Singh P, Priyadarshi M, Chaurasia S, Verma PK, Basu S.   +6 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Neonatal unilateral testicular torsion in the first 16 hours of life: A case report and literature review. [PDF]

Medicine (Baltimore)
Abu-Sharikh G, Altell K, Najjar R, Karaki A.   +3 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

A Tiny Heart, a Massive Challenge: Case Presentation of Pericardial Effusion and Cardiac Tamponade in an Extremely Preterm Neonate and Corresponding Literature Review. [PDF]

Cureus
Sakharkar S, Tiwari D, Lakshmivenkateshiah S, Yemul R.   +3 more
europepmc   +1 more source

Neonatal adrenal hemorrhage and neonatal jaundice

Journal of Indian Association of Pediatric Surgeons, 2010
openaire   +3 more sources

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Giant Fetal Sacrococcygeal Teratoma: Prenatal Detection, Monitoring, and Postnatal Management-A Case Report and Literature Review. [PDF]

Clin Case Rep
Om T, Zam CL, Sherub K, Dorji P.
europepmc   +1 more source