title: Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population.
abstract: Amniotic deformity, adhesion, and mutilation (ADAM) sequence is a heterogeneous condition, with a broad spectrum of anomalies, where intrinsic causes, as defect of germ plasm, vascular disruption, and disturbance of threshold boundaries of morphogens during early gastrulation, alternate with extrinsic causes as amniotic band rupture to explain the condition. This study aimed to identify which phenotypes could be considered as ADAM sequence, determine the prevalence rate, and disclose risk factors for this sequence. We identified 270 cases defined as having some skin evidence of constriction band, plus those having limb defects suggestive of ADAM sequence, among 3,020,896 live and stillborns in the years 1982 to 1998 in ECLAMC (Latin American Collaborative Study of Congenital Malformations). Half of the cases presented mutilation (reduction), and deformity (ring constriction) affecting distal parts of fingers or toes bilaterally, without associated defects. Acrania, cephalocele, typical or atypical facial clefts, eyelid coloboma, and celosomia were also observed being significantly associated with the skin lesion. One affected infant in every 11,200 births, was found with stable trends during the last 17 years. There was an excess of cases in populations living at high altitude, stillborns, and neonatal infant dead. Among ADAM cases there was an excess of mothers with a prenatal history of febrile acute illness, medication drug use, or vaginal bleeding during the first trimester of pregnancy. Higher than expected frequencies of first-born child, premature birth, low birth weight for gestational length, and non-cephalic fetal presentation were also found. The observed geographic difference in birth prevalence could be a useful indication to study specific genetic and environmental candidate factors to ADAM susceptibility.
authors.affiliation: Estudo Colaborativo Latino Americano de Malformaçoes Congênitas: ECLAMC at Departamento de Genética, Curso de Pós-Graduação em Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. orioli@centroin.com.br
authors.forename: Iêda M
authors.initials: IM
authors.lastname: Orioli
authors.forename: Márcia G
authors.initials: MG
authors.lastname: Ribeiro
authors.forename: Eduardo E
authors.initials: EE
authors.lastname: Castilla
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D000652:Amniotic Band Syndrome / Q000453:epidemiology / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000473:pathology; D008297:Male; D010641:Phenotype; D015995:Prevalence; D012307:Risk Factors; D013020:South America / Q000453:epidemiology