Abstract
A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further clinical findings to expand the spectrum of this rare syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 931-933 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 47 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 1993 |
Fingerprint
Keywords
- autosomal dominant inheritance
- ectodermal dysplasia
- hyperdontia
- mental retardation
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly : Report of a new patient with additional findings. / Silengo, M.; Lerone, M.; Romeo, G.; Calcagno, E.; Martucciello, G.; Jasonni, V.
In: American Journal of Medical Genetics, Vol. 47, No. 6, 1993, p. 931-933.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
T2 - Report of a new patient with additional findings
AU - Silengo, M.
AU - Lerone, M.
AU - Romeo, G.
AU - Calcagno, E.
AU - Martucciello, G.
AU - Jasonni, V.
PY - 1993
Y1 - 1993
N2 - A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further clinical findings to expand the spectrum of this rare syndrome.
AB - A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further clinical findings to expand the spectrum of this rare syndrome.
KW - autosomal dominant inheritance
KW - ectodermal dysplasia
KW - hyperdontia
KW - mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0027441824&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027441824&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320470624
DO - 10.1002/ajmg.1320470624
M3 - Article
VL - 47
SP - 931
EP - 933
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 6
ER -