PLANTAR LIPOMATOSIS, UNUSUAL FACIAL PHENOTYPE AND DEVELOPMENTAL DELAY- A NEW MCA MR SYNDROME/

Citation
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
Citations number
3
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
75
Issue
1
Year of publication
1998
Pages
18 - 21
Database
ISI
SICI code
0148-7299(1998)75:1<18:PLUFPA>2.0.ZU;2-P
Abstract
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.