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
C2 - 8279493
AN - SCOPUS:0027441824
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 -