Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs

Am J Med Genet. 1990 Sep;37(1):119-23. doi: 10.1002/ajmg.1320370128.


We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Fetal Growth Retardation / genetics
  • Genes, Lethal
  • Genes, Recessive
  • Holoprosencephaly / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics
  • Syndrome