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 |
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Keywords
- Abnormal hair
- Aplasia cutis
- Epibulbar dermoids
- Macrocephaly
- Mental retardation
ASJC Scopus subject areas
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
- Anatomy
Cite this
New clinical findings in oculo-ectodermal syndrome. / Silengo, Margherita; Lerone, Margherita; Seri, Marco; Priolo, Manuela; Jarre, Laura.
In: Clinical Dysmorphology, Vol. 9, No. 1, 2000, p. 39-41.Research output: Contribution to journal › Article
}
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 -