TY - JOUR
T1 - The marshall syndrome
T2 - Report of a new family and review of the literature
AU - Shanske, Alan L.
AU - Bogdanow, Anna
AU - Shprintzen, Robert J.
AU - Marion, Robert W.
PY - 1997/5/2
Y1 - 1997/5/2
N2 - The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multi-generational families have been reported since the initial description of the disorder by Marshall in 1958. We present a family in which six members in four generations are affected with apparent Marshall syndrome. We also review and compare similar disorders, such as Stickler, Weissenbacher- Zweimuller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity.
AB - The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multi-generational families have been reported since the initial description of the disorder by Marshall in 1958. We present a family in which six members in four generations are affected with apparent Marshall syndrome. We also review and compare similar disorders, such as Stickler, Weissenbacher- Zweimuller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity.
KW - Marshall syndrome
KW - Stickler syndrome
KW - Wagner syndrome
KW - Weissenbacher-Zweymuller syndrome
KW - ectodermal dysplasia
KW - type II collagen
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U2 - 10.1002/(SICI)1096-8628(19970502)70:1<52::AID-AJMG11>3.0.CO;2-W
DO - 10.1002/(SICI)1096-8628(19970502)70:1<52::AID-AJMG11>3.0.CO;2-W
M3 - Article
C2 - 9129742
AN - SCOPUS:0030995929
SN - 0148-7299
VL - 70
SP - 52
EP - 57
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 1
ER -