Lambotte Syndrome

Clinical Features

Verloes et al. (1990) described an Arabic sibship originating from Morocco in which 4 children had a syndrome of intrauterine growth retardation, microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, unusual hooked nose, narrow mouth, retrognathia, and severe neurologic impairment. One sib was stillborn. The other 3 died in a cachectic state during their second year. One child had severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations included anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. The parents denied consanguinity, although they shared the same family name and came from the same village.