Lumbopedal skin pedicle in an infant with the amniotic band syndrome: a Disorganization-like defect?
A female infant is presented in whom anomalies not commonly seen in amniotic band syndrome (ABS) included non-anatomic lumbopedal union by a skin pedicle, anorectal malformation, meningocele, vertebral segmentation defects, longitudinal limb defects, vestigial feet and skin papillae. The unusual, non-band related malformations in the proposita showed similarity to the mouse mutant Disorganization (Ds). This report, supports the suggestion that Ds-like mutations may cause some cases with apparent ABS associated with "skin pedicles".
Corona-Rivera
Jorge Román
JR
Laboratorio de Genética Humana y Clínica de Asesoramiento Genético, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 950, Colonia Independencia, C.P. 44340, Guadalajara, Jal., México. rocorona@cucs.udg.mx
Corona-Rivera
Enrique
E
Navarro-Ramírez
Pedro
P
Castro-Hernández
J Francisco
JF
Acosta-León
Jorge
J
Corona-Rivera
Alfredo
A
D000015:Abnormalities, Multiple / Q000473:pathology*; D000652:Amniotic Band Syndrome / Q000473:pathology*; D000818:Animals; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D051379:Mice; D008817:Mice, Mutant Strains; D012868:Skin Abnormalities / Q000473:pathology*