TY - JOUR
T1 - Plantar lipomatosis, unusual facial phenotype and developmental delay
T2 - A new MCA/MR syndrome
AU - Pierpont, Mary Ella M.
AU - Stewart, Fiona J.
AU - Gorlin, Robert J.
PY - 1998/1/6
Y1 - 1998/1/6
N2 - 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.
AB - 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.
KW - Fetal finger and toe fat pads
KW - Mental retardation
KW - Plantar fat pads
KW - Plantar lipomatosis
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U2 - 10.1002/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M
DO - 10.1002/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M
M3 - Article
C2 - 9450851
AN - SCOPUS:0031984246
VL - 75
SP - 18
EP - 21
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -