Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
Report on a second family. The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. In addition, they show a mildly dysmorphic but apparently characteristic face. Radiologically, hands and feet demonstrate brachydactyly, metacarpals and metatarsals being the most severely affected. This observation confirms that this multiple congenital anomalies/mental retardation pattern is a distinct, probably autosomal recessively inherited entity.
Abt. Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany.
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D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D005808:Genes, Recessive; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome