Genitopatellar syndrome, sensorineural hearing loss, and cleft palate

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4.

Abstract

Introduction: Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. Cardiac anomalies, ectodermal dysplasia, and radio-ulnar synostosis have been suggested as additional features.

Discussion: We report on additional female patient with sensorineural hearing loss, cleft palate, and hypothyroidism in addition to known anomalies. Findings are discussed based on a literature review of the known patients with the genitopatellar syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Aberrations
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics
  • Congenital Hypothyroidism / diagnosis
  • Congenital Hypothyroidism / genetics
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Female
  • Genes, Recessive
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • Musculoskeletal Abnormalities / diagnosis*
  • Musculoskeletal Abnormalities / genetics
  • Patella / abnormalities
  • Syndrome
  • Urogenital Abnormalities / diagnosis*
  • Urogenital Abnormalities / genetics

Supplementary concepts

  • Absent patella