Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

Am J Med Genet. 1999 Oct 29;86(5):492-6. doi: 10.1002/(sici)1096-8628(19991029)86:5<492::aid-ajmg17>3.0.co;2-e.

Abstract

Two brothers born to a healthy, consanguineous Spanish couple have a syndrome of Möbius sequence with involvement of cranial nerves V, VI, VII, IX, and XII, central nervous system malformations; characteristic face with creased earlobes, short philthrum, and a short, arched upper lip, skeletal anomalies with short sternum and delayed bone maturation, hypogenitalism, and profound mental retardation. We suggest that this is a new multiple congenital anomalies condition and mental retardation (MCA/MR) syndrome with autosomic recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities*
  • Brain / abnormalities*
  • Brain / pathology
  • Child
  • Consanguinity
  • Cranial Nerves / abnormalities*
  • Cranial Nerves / pathology
  • Facial Paralysis / genetics*
  • Female
  • Humans
  • Hypogonadism / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Nuclear Family
  • Spain
  • Syndrome