[An infant without nails].
A 2-week-old boy, born after an uncomplicated pregnancy of consanguineous parents, was seen with congenital absence of all nails on fingers and toes. After 6 weeks marginal nail growth was seen. Because there were no other congenital abnormalities, this was considered to be anonychia congenita; probably caused by a recessive defect of the R-spondin 4-coding gene.
VU Medisch Centrum, Amsterdam, Afd. Kindergeneeskunde, the Netherlands. sabinetheuns@gmail.com
Sabine D M
SD
Theuns-Valks
Clarissa E
CE
Vergunst
D005385:Fingers / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009262:Nails / Q000473:pathology; D009264:Nails, Malformed / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D014034:Toes / Q000473:pathology