Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome.
We present a female infant with a combination of finger duplication, amniotic band-like constrictions and extensive syndactyly affecting all four limbs with skin tags. No facial dysmorphic features nor associated malformations were present. Growth and development was normal and there was no family history of congenital abnormalities. The presence of constriction band-like regions on the hands and absent or hypoplastic digits suggests the amniotic deformity, adhesion and mutilation complex. Mutations in the human homologue of the mouse gene disorganization gene may also be the mechanism for the combination of constriction/duplication abnormalities with distant skin tags seen in this patient.
O'Driscoll
Mary
M
Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK. drmaryodisco@yahoo.co.uk
Peckham
Clarie
C
Kerr
Bronwyn
B
D000818:Animals; D005260:Female; D006801:Humans; D007223:Infant; D051379:Mice; D012535:Scalp / Q000002:abnormalities*; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology*; D013576:Syndactyly / Q000235:genetics / Q000473:pathology*