Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?
A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.
Steijlen
P M
PM
Department of Dermatology, University Hospital Nijmegen, The Netherlands.
Neumann
H A
HA
der Kinderen
D J
DJ
Smeets
D F
DF
van der Kerkhof
P C
PC
Happle
R
R
D000328:Adult; D000505:Alopecia / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000235:genetics; D005260:Female; D006197:Hair / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D016388:Tooth Loss / Q000235:genetics* / Q000473:pathology