Mem. Pierpont et al., PLANTAR LIPOMATOSIS, UNUSUAL FACIAL PHENOTYPE AND DEVELOPMENTAL DELAY- A NEW MCA MR SYNDROME/, American journal of medical genetics, 75(1), 1998, pp. 18-21
We describe two boys with global developmental delay and a phenotype o
f microcephaly, midface hypoplasia, enlarged fleshy ears, depressed na
sal bridge, anteverted nostrils, central palatal ridge, and high foreh
ead, Bilateral congenital fat pads are present anteromedial to the hee
ls, Fetal finger and toe pads are present and palmar and plantar groov
es 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 presentatio
n which are consider a ''new'' syndrome, (C) 1998 Wiley-Liss, Inc.