Term newborn with microphthalmia, encephalocele and linear skin defect

María E. Franco Fuenmayor; M. L. Huff

doi:10.26326/2281-9649.31.2.2236

Term newborn with microphthalmia, encephalocele and linear skin defect

María E. Franco Fuenmayor, M. L. Huff

Pediatrics

Research output: Contribution to journal › Article › peer-review

Abstract

The presence of skin and ocular findings includes syndromes with X linked transmission, such as microphthalmia with linear skin defects (MLS) syndrome, focal dermal hypoplasia (Goltz syndrome), oculocerebrocutaneous syndrome, incontinentia pigmenti and Aicardi syndrome. We report the case of a term neonate with corneal opacities and unusual skin findings along with an encephalocele consistent with MLS syndrome.

Original language	English (US)
Pages (from-to)	95-98
Number of pages	4
Journal	European Journal of Pediatric Dermatology
Volume	31
Issue number	2
DOIs	https://doi.org/10.26326/2281-9649.31.2.2236
State	Published - 2021

Keywords

Corneal opacity
Encephalocele
Skin

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Dermatology

Access to Document

10.26326/2281-9649.31.2.2236

Cite this

@article{84df43f143f54dd38144202c7ea76cd0,

title = "Term newborn with microphthalmia, encephalocele and linear skin defect",

abstract = "The presence of skin and ocular findings includes syndromes with X linked transmission, such as microphthalmia with linear skin defects (MLS) syndrome, focal dermal hypoplasia (Goltz syndrome), oculocerebrocutaneous syndrome, incontinentia pigmenti and Aicardi syndrome. We report the case of a term neonate with corneal opacities and unusual skin findings along with an encephalocele consistent with MLS syndrome.",

keywords = "Corneal opacity, Encephalocele, Skin",

author = "{Franco Fuenmayor}, {Mar{\'i}a E.} and Huff, {M. L.}",

year = "2021",

doi = "10.26326/2281-9649.31.2.2236",

language = "English (US)",

volume = "31",

pages = "95--98",

journal = "European Journal of Pediatric Dermatology",

issn = "1122-7672",

publisher = "Dermatologia Peditrica",

number = "2",

}

TY - JOUR

T1 - Term newborn with microphthalmia, encephalocele and linear skin defect

AU - Franco Fuenmayor, María E.

AU - Huff, M. L.

PY - 2021

Y1 - 2021

N2 - The presence of skin and ocular findings includes syndromes with X linked transmission, such as microphthalmia with linear skin defects (MLS) syndrome, focal dermal hypoplasia (Goltz syndrome), oculocerebrocutaneous syndrome, incontinentia pigmenti and Aicardi syndrome. We report the case of a term neonate with corneal opacities and unusual skin findings along with an encephalocele consistent with MLS syndrome.

AB - The presence of skin and ocular findings includes syndromes with X linked transmission, such as microphthalmia with linear skin defects (MLS) syndrome, focal dermal hypoplasia (Goltz syndrome), oculocerebrocutaneous syndrome, incontinentia pigmenti and Aicardi syndrome. We report the case of a term neonate with corneal opacities and unusual skin findings along with an encephalocele consistent with MLS syndrome.

KW - Corneal opacity

KW - Encephalocele

KW - Skin

UR - http://www.scopus.com/inward/record.url?scp=85106364980&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85106364980&partnerID=8YFLogxK

U2 - 10.26326/2281-9649.31.2.2236

DO - 10.26326/2281-9649.31.2.2236

M3 - Article

AN - SCOPUS:85106364980

SN - 1122-7672

VL - 31

SP - 95

EP - 98

JO - European Journal of Pediatric Dermatology

JF - European Journal of Pediatric Dermatology

IS - 2

ER -

Term newborn with microphthalmia, encephalocele and linear skin defect

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this