Oculo‐palato‐cerebral dwarfism: a new syndrome

Abstract

Three of 4 offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous and short stature. In 1 patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. This constellation of findings appears to be a new genetic syndrome and was termed the oculo-palato-cerebral dwarfism syndrome.