Filippi syndrome: a new case with skeletal abnormalities.
We report on a 9 year old girl, born to consanguineous parents, with major microcephaly, cutaneous syndactyly of the toes, and moderate mental retardation with marked speech involvement. In addition, moderate dysmorphic features and skeletal abnormalities were noted. This multiple congenital anomalies/mental retardation pattern very much resembles that described by Filippi. This observation confirms that this syndrome is a distinct, probably autosomal recessive entity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D013064:Speech Disorders / Q000235:genetics; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome