Novel neonatal presentation of megalencephaly‐polymicrogyria‐pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case

Pediatric Dermatology ◽

10.1111/pde.14480 ◽

2020 ◽

Author(s):

Dustin L. Taylor ◽

Robert S. Wildin ◽

Keith W. Morley

Keyword(s):

Pigmentary Mosaicism ◽

Neonatal Presentation

Riboflavin Nonresponsive Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) with Early Severe Cardiomyopathy: Favorable Long-Term Outcome of a Severe Neonatal Presentation on D,L-3-hydroxybutyrate Supplementation

10.1055/s-0040-1705557 ◽

2020 ◽

Author(s):

F. Seggewies ◽

L. Guilder ◽

R. Olsen ◽

J. Deanfield ◽

S. Olpin ◽

...

Keyword(s):

Dehydrogenase Deficiency ◽

Term Outcome ◽

Long Term Outcome ◽

Neonatal Presentation

Pigmentary Mosaicism with Myxomatous Mitral Valve Disease and Various Extra Cutaneous Findings

Journal of Cosmetology & Trichology ◽

10.4172/2471-9323.1000136 ◽

2018 ◽

Vol 04 (02) ◽

Author(s):

Akshit Chitkara ◽

Shikhar Ganjoo

Keyword(s):

Mitral Valve ◽

Mitral Valve Disease ◽

Valve Disease ◽

Pigmentary Mosaicism

Phylloid Hypermelanosis: An Unusual Form of Pigmentary Mosaicism

Dermatology ◽

10.1159/000277313 ◽

2010 ◽

Vol 220 (2) ◽

pp. 183-185 ◽

Cited By ~ 6

Author(s):

Rudolf Happle

Keyword(s):

Unusual Form ◽

Pigmentary Mosaicism

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.37593 ◽

2016 ◽

Vol 170 (5) ◽

pp. 1155-1164 ◽

Cited By ~ 5

Author(s):

Alexandra Topa ◽

Mar Tulinius ◽

Anders Oldfors ◽

Carola Hedberg-Oldfors

Keyword(s):

Shwachman Diamond Syndrome ◽

Neonatal Presentation

An unusual association of pigmentary mosaicism (hypomelanosis of Ito) with generalized hypertrichosis

Clinical and Experimental Dermatology ◽

10.1111/j.1365-2230.2006.02103.x ◽

2006 ◽

Vol 31 (3) ◽

pp. 467-468 ◽

Cited By ~ 2

Author(s):

S. Khandpur ◽

A. Minz ◽

V. K. Sharma

Keyword(s):

Hypomelanosis Of Ito ◽

Unusual Association ◽

Pigmentary Mosaicism

Successful treatment of severe Type I glycogen storage disease with neonatal presentation by nocturnal intragastric feeding

The Journal of Pediatrics ◽

10.1016/s0022-3476(79)80153-5 ◽

1979 ◽

Vol 94 (5) ◽

pp. 772-774 ◽

Cited By ~ 14

Author(s):

M. Perlman ◽

M. Aker ◽

A.E. Slonim

Keyword(s):

Glycogen Storage Disease ◽

Successful Treatment ◽

Storage Disease ◽

Glycogen Storage ◽

Type I ◽

Severe Type ◽

Neonatal Presentation

Poland syndrome: neonatal presentation with axillary pterygium

BMJ Case Reports ◽

10.1136/bcr-2020-241395 ◽

2021 ◽

Vol 14 (3) ◽

pp. e241395

Author(s):

Tânia dos Santos Mendo ◽

Teresa Almeida ◽

Ana Teresa Maria ◽

Madalena Lopo Tuna

Keyword(s):

Poland Syndrome ◽

Neonatal Presentation

Pigmentary Mosaicism

Pediatric Skin of Color ◽

10.1007/978-1-4614-6654-3_8 ◽

2015 ◽

pp. 97-99

Author(s):

Eulalia Baselga

Keyword(s):

Pigmentary Mosaicism

Pigmentary mosaicism: An update

Indian Journal of Dermatology ◽

10.4103/0019-5154.41658 ◽

2008 ◽

Vol 53 (2) ◽

pp. 96 ◽

Cited By ~ 1

Author(s):

Rajoo Thapa

Keyword(s):

Pigmentary Mosaicism

Neonatal Presentation of an Air-Filled Neck Mass that Enlarges with Valsalva: A Case Report

American Journal of Perinatology Reports ◽

10.1055/s-0035-1563388 ◽

2015 ◽

Vol 05 (02) ◽

pp. e207-e211 ◽

Cited By ~ 3

Author(s):

Jasminkumar Patel ◽

Howard Kilbride ◽

Lorien Paulson

Keyword(s):

Case Report ◽

Neck Mass ◽

Neonatal Presentation