Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Yanick Crow; Richard B. Fisher; Peter W. Pairaudeau; James R. Innes; Richard J V Bartlett; Yanick J. Crow

doi:10.1097/01.mcd.0000220617.93520.bb

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Yanick Crow, Richard B. Fisher, Peter W. Pairaudeau, James R. Innes, Richard J V Bartlett, Yanick J. Crow

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

Abstract

A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient. © 2007 Lippincott Williams & Wilkins, Inc.

Original language	English
Pages (from-to)	59-61
Number of pages	2
Journal	Clinical dysmorphology
Volume	16
Issue number	1
DOIs	https://doi.org/10.1097/01.mcd.0000220617.93520.bb
Publication status	Published - Jan 2007

Keywords

Cataract
Focal dermal hypoplasia
Hypoplastic corpus callosum
Microphthalmia with linear skin defects
Oculocerebrocutaneous syndrome
Posterior synechiae
Subependymal heterotopia
Terminal osseous dysplasia and pigmentary defects

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title = "Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum",

abstract = "A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient. {\textcopyright} 2007 Lippincott Williams & Wilkins, Inc.",

keywords = "Cataract, Focal dermal hypoplasia, Hypoplastic corpus callosum, Microphthalmia with linear skin defects, Oculocerebrocutaneous syndrome, Posterior synechiae, Subependymal heterotopia, Terminal osseous dysplasia and pigmentary defects",

author = "Yanick Crow and Fisher, {Richard B.} and Pairaudeau, {Peter W.} and Innes, {James R.} and Bartlett, {Richard J V} and Crow, {Yanick J.}",

year = "2007",

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doi = "10.1097/01.mcd.0000220617.93520.bb",

language = "English",

volume = "16",

pages = "59--61",

journal = "Clinical dysmorphology",

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T1 - Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

AU - Crow, Yanick

AU - Fisher, Richard B.

AU - Pairaudeau, Peter W.

AU - Innes, James R.

AU - Bartlett, Richard J V

AU - Crow, Yanick J.

PY - 2007/1

Y1 - 2007/1

N2 - A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient. © 2007 Lippincott Williams & Wilkins, Inc.

AB - A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient. © 2007 Lippincott Williams & Wilkins, Inc.

KW - Cataract

KW - Focal dermal hypoplasia

KW - Hypoplastic corpus callosum

KW - Microphthalmia with linear skin defects

KW - Oculocerebrocutaneous syndrome

KW - Posterior synechiae

KW - Subependymal heterotopia

KW - Terminal osseous dysplasia and pigmentary defects

U2 - 10.1097/01.mcd.0000220617.93520.bb

DO - 10.1097/01.mcd.0000220617.93520.bb

M3 - Article

SN - 0962-8827

VL - 16

SP - 59

EP - 61

JO - Clinical dysmorphology

JF - Clinical dysmorphology

IS - 1

ER -

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

Abstract

Keywords

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