title: Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome.
abstract: We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and toe pads are present and palmar and plantar grooves are deeper than normal with "pillowing" of the areas between the grooves. No patients with similar clinical findings have been located, but these two children have a remarkably similar clinical presentation which we consider a "new" syndrome.
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
authors.forename: M E
authors.initials: ME
authors.lastname: Pierpont
authors.forename: F J
authors.initials: FJ
authors.lastname: Stewart
authors.forename: R J
authors.initials: RJ
authors.lastname: Gorlin
mesh_terms: D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D005534:Foot Diseases / Q000151:congenital / Q000235:genetics*; D006226:Hand Deformities / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008068:Lipomatosis / Q000151:congenital / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D013064:Speech Disorders / Q000235:genetics