TY - JOUR
T1 - The Peters'-Plus syndrome
T2 - description of 16 patients and review of the literature
AU - Hennekam, R. C.M.
AU - Van Schooneveld, M. J.
AU - Ardinger, H. H.
AU - Van den Boogaard, M. J.H.
AU - Friedburg, D.
AU - Rudnik-Schoneborn, S.
AU - Seguin, J. H.
AU - Weatherstone, K. B.
AU - Wittebol-Post, D.
AU - Meinecke, P.
PY - 1993/1/1
Y1 - 1993/1/1
N2 - Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.
AB - Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.
KW - anterior chamber cleavage disorder
KW - autosomal recessive
KW - cleft lip and palate
KW - Krause-Kivlin syndrome
KW - mental retardation
KW - Peters'-Plus syndrome
KW - short limb dwarfism
UR - http://www.scopus.com/inward/record.url?scp=0027484894&partnerID=8YFLogxK
M3 - Article
C2 - 7508316
AN - SCOPUS:0027484894
SN - 0962-8827
VL - 2
SP - 283
EP - 300
JO - Clinical dysmorphology
JF - Clinical dysmorphology
IS - 4
ER -