Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.

Abstract

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.

• Authors: P Meinecke
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 4 Issue 2 Pg. 147-51 ( 1993) ISSN: 1015-8146 [Print] Switzerland
• PMID: 8395190 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adolescent
• Diagnosis, Differential
• Face (abnormalities)
• Female
• Foot Deformities, Congenital (diagnostic imaging, genetics)
• Genes, Recessive
• Growth Disorders (diagnosis, genetics)
• Hand Deformities, Congenital (diagnostic imaging, genetics)
• Humans
• Intellectual Disability (diagnosis, genetics)
• Male
• Microcephaly (diagnosis, genetics)
• Radiography
• Speech Disorders (diagnosis, genetics)
• Syndactyly (diagnosis, genetics)
• Syndrome