Skeletal manifestations in Fryns syndrome.
We report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Sase
M
M
Tateishi
H
H
Saito
T
T
Kato
H
H
Furukawa
S
S
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008168:Lung / Q000002:abnormalities; D013577:Syndrome