Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.
Shapira
S K
SK
Division of Genetics, Children's Hospital, Boston, MA 02115.
Neish
A S
AS
Pober
B R
BR
D001125:Argininosuccinic Acid / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003300:Copper / Q000097:blood; D003638:Deafness; D002658:Developmental Disabilities; D005260:Female; D006130:Growth Disorders; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013455:Sulfur / Q000032:analysis; D013577:Syndrome
D001125:Argininosuccinic Acid; D013455:Sulfur; D003300:Copper