A pattern of craniofacial and limb defects secondary to aberrant tissue bands.
Seven infants have been studied who have a similar pattern of severe craniofacial and limb anomalies associated with aberrant tissue bands. The craniofacial anomalies consist of unusual encephaloceles, facial clefts, and cranial plus midfacial distortion; the limb anomalies consist of constrictions, amputations, and pseudosyndactyly. These defects are interpreted as being secondary to the early distorting and disruptive effects of aberrant tissue bands, the etiology for which is undetermined. Survival beyond the neonatal period has occurred in four of the five liveborn patients, indicating that early death should not necessarily be anticipated. Recurrence risk is apparently negligible.
Jones
K L
KL
Dysmorphology Unit, Department of Pediatrics, RR 234 Health Sciences, RD-20, University of Washington School of Medicine, Seattle, Wash. 98195, USA.
Smith
D W
DW
Hall
B D
BD
Hall
J G
JG
Ebbin
A J
AJ
Massoud
H
H
Golbus
M S
MS
D000015:Abnormalities, Multiple / Q000209:etiology*; D000652:Amniotic Band Syndrome / Q000150:complications* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000209:etiology*; D004677:Encephalocele / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000209:etiology*; D008297:Male