[Coffin-Siris syndrome in a 5-year-old girl].
A 5 1/2 year old female patient with Coffin-Siris syndrome is described. This syndrome is characterised by multiple congenital anomalies and mental retardation. The important clinical features include postnatal growth retardation, microcephaly, considerable psychomotor retardation, coarse facies with thick lips, sparse scalp hair with hypertrichosis of the face and body, as well as hypoplasia or even aplasia of distal phalanges of fingers and toes. Chromosomal aberrations, which could be considered as differential diagnosis are excluded by the finding of a normal karyotype. The aetiology or pathogenesis of this syndrome are not really known.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis; D008607:Intellectual Disability / Q000175:diagnosis*; D009264:Nails, Malformed; D010329:Patella / Q000002:abnormalities; D013577:Syndrome
Coffin-Siris-Syndrom bei einem 5jährigen Mädchen.