New clinical findings in oculo-ectodermal syndrome

Margherita Silengo; Margherita Lerone; Marco Seri; Manuela Priolo; Laura Jarre

New clinical findings in oculo-ectodermal syndrome

Margherita Silengo, Margherita Lerone, Marco Seri, Manuela Priolo, Laura Jarre

Istituto "Giannina Gaslini"

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

Abstract

We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.

Original language	English
Pages (from-to)	39-41
Number of pages	3
Journal	Clinical Dysmorphology
Volume	9
Issue number	1
Publication status	Published - 2000

Keywords

Abnormal hair
Aplasia cutis
Epibulbar dermoids
Macrocephaly
Mental retardation

ASJC Scopus subject areas

Genetics(clinical)
Pediatrics, Perinatology, and Child Health
Anatomy

Access to Document

Fingerprint Dive into the research topics of 'New clinical findings in oculo-ectodermal syndrome'. Together they form a unique fingerprint.

Cite this

@article{02f7654f03cb47efb9a4b12bd0d2fce2,

title = "New clinical findings in oculo-ectodermal syndrome",

abstract = "We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.",

keywords = "Abnormal hair, Aplasia cutis, Epibulbar dermoids, Macrocephaly, Mental retardation",

author = "Margherita Silengo and Margherita Lerone and Marco Seri and Manuela Priolo and Laura Jarre",

year = "2000",

language = "English",

volume = "9",

pages = "39--41",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

number = "1",

}

TY - JOUR

T1 - New clinical findings in oculo-ectodermal syndrome

AU - Silengo, Margherita

AU - Lerone, Margherita

AU - Seri, Marco

AU - Priolo, Manuela

AU - Jarre, Laura

PY - 2000

Y1 - 2000

N2 - We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.

AB - We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with this rare entity. Our case further expands the clinical spectrum of the syndrome to include mental retardation, seizures and microscopic hair changes.

KW - Abnormal hair

KW - Aplasia cutis

KW - Epibulbar dermoids

KW - Macrocephaly

KW - Mental retardation

UR - http://www.scopus.com/inward/record.url?scp=0033965856&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033965856&partnerID=8YFLogxK

M3 - Article

C2 - 10649796

AN - SCOPUS:0033965856

VL - 9

SP - 39

EP - 41

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

SN - 0962-8827

IS - 1

ER -