Boscherini B, Colabucci F, Galasso C, Marietti G, Cappa M, Pasquino A M
Department of Pediatrics, University of Rome Tor Vergata, Italy.
Am J Med Genet. 1996 Dec 18;66(3):269-72. doi: 10.1002/(SICI)1096-8628(19961218)66:3<269::AID-AJMG6>3.0.CO;2-K.
We describe a patient with primordial microcephalic dwarfism with severe intrauterine growth retardation and severe and progressive postnatal deficit in length, weight and head circumference. The patient was extroverted and sociable but mildly mentally retarded. He had marked delay of bone maturation and an enlargement of the sella turcica. This child and two previously reported patients [Boscherini et al., Eur J Pediatr 137:237-242, 1981] have many characteristics in common with Caroline Crachami, the famous "Sicilian dwarf". We think that these patients belong to a separate category of microcephalic primordial dwarfism.
