Results 221 to 230 of about 345,481 (316)

Direct percutaneous access of the thoracic duct in a neonate as curative treatment of a high-output life-threatening chylothorax due to thrombotic occlusion of the thoracic duct-venous junction. [PDF]

Pediatr Radiol
Kronenberg D, Dave H, Kretschmar O, Bosch A, Kelly-Geyer J, Kellenberger CJ, Gnannt R.   +6 more
europepmc   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Intrapartum vitamin D levels a predictor of new-born anthropometry: An observational study in a teaching hospital of Eastern India. [PDF]

J Family Med Prim Care
Saha R, Kumar P, Ahmad S, Mahto M, Anant M, Padmanabhan AA, Ranjan A.   +6 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Phocomelia: Bilateral limb deficiency in a neonate: A case report. [PDF]

World J Clin Pediatr
Omullo FP, Shahabi K, Kitheghe TK, Mutuku B, Simiyu BW.   +4 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning. [PDF]

Pediatr Int
Okuno T, Ikawa M, Yuasa M, Muramoto A, Fu L, Matsumoto N, Watanabe A.   +6 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Re-evaluating a Prenatal Do Not Attempt Resuscitation Order in a Neonate With Ebstein's Anomaly: A Case Report Highlighting Ethical Flexibility in Neonatal Care. [PDF]

Cureus
Alhalawi A.
europepmc   +1 more source