| Literature DB >> 8368246 |
S Martínez Santana1, F Pérez Alvarez, J L Frías, M L Martínez-Frías.
Abstract
We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].Entities:
Mesh:
Year: 1993 PMID: 8368246 DOI: 10.1002/ajmg.1320470105
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299