Amniotic band sequence and its neurocutaneous manifestations.
Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 and 6 had only limb defects. Craniofacial and neurologic manifestations of our longer-survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro- or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema. pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.
Department of Medical Genetics, Children's Medical Center, Dayton, OH 45404.
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Chen
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Gonzalez
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000652:Amniotic Band Syndrome / Q000150:complications / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012871:Skin Diseases / Q000473:pathology*; D012886:Skull / Q000002:abnormalities