Nevo syndrome.
We describe a male patient born to consanguineous parents with a syndrome of tall stature at birth, hypotonia, wrist drop and long spindle shaped fingers. The clinical features are identical to those previously described in three cases from a single family by Nevo et al. (1974: J Med Genet 11: 158-165). Autosomal recessive inheritance is supported by consanguinity in our case. Follow-up at age 3 years demonstrated significant improvement of hypotonia and motor function, and normal cognitive ability.
Hilderink
B G
BG
Department of Pediatrics, Nijmegen University Hospital, The Netherlands.
Brunner
H G
HG
D001827:Body Height; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D005314:Embryonic and Fetal Development / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D007738:Kyphosis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009129:Muscle Tonus / Q000235:genetics; D013577:Syndrome