Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor anomalies. Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report on a female patient with unusually severe manifestations of Peters Plus syndrome, including anterior eye staphyloma, cleft lip and palate, and hypoplastic left heart syndrome (HLHS). Analysis of the B3GALTL gene revealed no mutation in the patient. To our knowledge, HLHS has not previously been reported in Peters Plus syndrome so far, and anterior staphyloma, a most severe defect of the anterior eye chamber, is also apparently rare in the syndrome. Our patient might represent a new syndrome of severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and HLHS.
Shimizu
Reiko
R
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. rmuto@ped.twmu.ac.jp
Saito
Ryota
R
Hoshino
Kenji
K
Ogawa
Kiyoshi
K
Negishi
Takashi
T
Nishimura
Jiro
J
Mitsui
Norimasa
N
Osawa
Makiko
M
Ohashi
Hirofumi
H
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002971:Cleft Lip; D003315:Cornea / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics; D005964:Glucosyltransferases / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis
C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases