Partial biotinidase deficiency associated with Coffin-Siris syndrome.
Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.
Burlina
A B
AB
Department of Paediatrics, University of Padova, Italy.
Sherwood
W G
WG
Zacchello
F
F
D000505:Alopecia / Q000150:complications*; D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D002675:Child, Preschool; D003872:Dermatitis / Q000150:complications*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
D000581:Amidohydrolases; D043523:Biotinidase