Rare presentation of neurofibromatosis and Turner syndrome in a pediatric patient

Autor: Natalie Gengel, Ian Marshall

Publikováno v: Pediatric Reports, Vol 9, Iss 2 (2017)

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the f

Externí odkaz: https://doaj.org/article/d08c798899374da3ad977e83c69819f7

8p 11 Microduplication Is Associated with Neonatal Stridor

Autor: Kenya Cabrera, Christina Botti, Surasak Puvabanditsin, Rajeev Mehta, Marianne Jacob, Maaz Jalil, Natalie Gengel

Publikováno v: Molecular syndromology. 9(6)

We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee44daf05a5317490df69f205417af1
https://pubmed.ncbi.nlm.nih.gov/30800050

Vein of Galen malformation in a neonate: A case report and review of endovascular management.

Autor: Puvabanditsin S; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Mehta R; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Palomares K; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Gengel N; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Da Silva CF; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Roychowdhury S; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Gupta G; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Kashyap A; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States., Sorrentino D; Surasak Puvabanditsin, Rajeev Mehta, Natalie Gengel, Christina Ferrucci-Da Silva, Arun Kashyap, David Sorrentino, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903, United States.

Publikováno v: World journal of clinical pediatrics [World J Clin Pediatr] 2017 Feb 08; Vol. 6 (1), pp. 103-109. Date of Electronic Publication: 2017 Feb 08 (Print Publication: 2017).