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

Genet Couns. 1993;4(2):147-51.

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.

Publication types

  • Case Reports

MeSH terms

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