[The acrocallosal syndrome. Report of an additional case].
The acrocallosal syndrome is a rare congenital malformation syndrome with the main findings: agenesis of the corpus callosum, craniofacial dysmorphisms, mental retardation, polydactyly of the hands and/or feet. We report a patient with partial agenesis of the corpus callosum, dolichocephalus, broad and short nose, low-set and posteriorly rotated ears, pre- and postaxial polydactyly of feet, duplication with syndactyly of big toes, and postaxial hexadactyly of the left hand. Differential diagnosis and the genetic counseling are discussed.
Wendisch
J
J
Klinik für Kinderheilkunde, Medizinischen Akademie Carl Gustav Carus, Dresden.
Lorenz
P
P
Kabus
M
M
Rupprecht
E
E
Walther
S
S
D000015:Abnormalities, Multiple; D005147:Facial Bones / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D013576:Syndactyly; D013577:Syndrome
Das akrocallosale Syndrom. Bericht über einen weiteren Fall.