TY - JOUR
T1 - Fraser syndrome
T2 - A clinical study of 59 cases and evaluation of diagnostic criteria
AU - Van Haelst, Mieke M.
AU - Scambler, Peter J.
AU - Hennekam, Raoul C.M.
AU - Al-Gazali, Lihadt
AU - Aytes, Perez
AU - Bonato, Arianna
AU - Chitayat, David
AU - Dobbie, Angus
AU - Donnai, Dian
AU - Elmslie, Frances
AU - Ferreira, Jose
AU - Francannet, Christine
AU - Gilbert, Brigitte
AU - Graham, John
AU - Hennekam, Raoul
AU - Holder, Sue
AU - Kerr, Bronwyn
AU - Maas, Saskia
AU - Megarbane, Andre
AU - Meinecke, Peter
AU - Melancon, Serge
AU - Midro, Alina
AU - Nelson, John
AU - Philip, Nicole
AU - Reardon, Willie
AU - Reutter, Heiko
AU - Santos, Heloise
AU - Scambler, Peter
AU - Thauvin, Christel
AU - Todos, Eva
AU - Tolmie, John
AU - Van Essen, Ton
AU - Wilkie, Andrew
AU - Wilson, Louise
PY - 2007/12/15
Y1 - 2007/12/15
N2 - Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were observed less frequently than previously reported. Clinical features in probands and sibs were remarkably similar. As can be expected prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Otherwise patients diagnosed before and after birth had similar frequencies of symptoms. Based on the present results we suggest an adaptation of diagnostic criteria for FS, including adding airway tract and urinary tract anomalies as major criteria. The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool.
AB - Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were observed less frequently than previously reported. Clinical features in probands and sibs were remarkably similar. As can be expected prenatally diagnosed patients had more manifestations that gave rise to a pathological amount of amniotic fluid. Otherwise patients diagnosed before and after birth had similar frequencies of symptoms. Based on the present results we suggest an adaptation of diagnostic criteria for FS, including adding airway tract and urinary tract anomalies as major criteria. The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool.
KW - Cryptophthalmos
KW - Fraser syndrome
KW - Revised diagnostic criteria
UR - http://www.scopus.com/inward/record.url?scp=37249027239&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=37249027239&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31951
DO - 10.1002/ajmg.a.31951
M3 - Article
C2 - 18000968
AN - SCOPUS:37249027239
SN - 1552-4825
VL - 143
SP - 3194
EP - 3203
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 24
ER -