| Literature DB >> 263584 |
H Keller, G Neuhauser, M V Durkin-Stamm, E G Kaveggia, A Schaaff, F Sitzmann.
Abstract
We report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that the clinical picture of the ADAM complex varies enormously; a less severe type combines cleft lip and palate with amputations or amniotic bands. Clinical and experimental data suggest that these malformations are of symptomatic (exogenous) origin. Nosologic differentiation from other conditions phenotypically similar but of genetic etiology is important for genetic counseling. Observation of the ADAM complex in two members of a family suggests that genetic factors might operate in some cases.Entities:
Mesh:
Year: 1978 PMID: 263584 DOI: 10.1002/ajmg.1320020108
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299