Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder?
We report a mother and two sons with developmental delay, absent nails and an abnormal gait. Review of the literature did not reveal another report of this distinctive pattern of malformations. This family appears to represent a previously undescribed neurogenetic syndrome.
Lynch
S A
SA
Department of Paediatrics, Newcastle General Hospital, UK.
Gardner-Medwin
D
D
Burn
J
J
Bushby
K M
KM
D000015:Abnormalities, Multiple / Q000235:genetics*; D001264:Athetosis / Q000235:genetics*; D002819:Chorea / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D009264:Nails, Malformed