title: On the nosology of the craniodigital syndromes: report of a family and review of the literature.
abstract: During a systematic survey for genetic causes of mental retardation in schools for adolescents with learning problems we had the occasion to examine a 16-year-old moderately mentally retarded boy with facial dysmorphism, short stature, relative microcephaly, complete cutaneous syndactyly of fingers III/IV and of toes II/III. Partial clinical manifestations (low to subnormal intelligence and syndactyly) were present in his mother and sister. We discuss the nosology and differential diagnosis of the craniodigital syndromes.
authors.affiliation: Center for Human Genetics, University Hospital, Leuven, Belgium.
authors.forename: D
authors.initials: D
authors.lastname: Soekarman
authors.forename: P
authors.initials: P
authors.lastname: Volcke
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D012720:Severity of Illness Index; D013576:Syndactyly / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome