Summary
Proportionate primordial short stature "dwarfism'', severe microdontia, opalescent teeth, rootless molars and short-rooted incisors was first described in 2002 in a Thai brother and sister. It is a well-defined entity and should not be mistaken for Seckel syndrome, MOPD (microcephalic osteodysplasticprimordial dwarfism) or other known syndromes. Distinctive features include long second toes, distal symphalangism of toes, areas of skin hypo-and hyperpigmentation, severe microdontia, malformation of small unusually multicuspided mandibular premolars multicuspided mandibular premolars (see this term), opalescent teeth, rootless molars and severely hypoplastic alveolar processes. Opalescent teeth refer to teeth with blue-grey to amber-brown discoloration. Dental crowns are unusually translucent. The major manifestations found are severe intrauterine and postnatal growth retardation, prominent nose and nasal bridge, small pinnae, large sella turcica (whether the basic defect in this syndrome involves the pituitary gland has still to be elucidated), dry and thin scalp hair, long and straight clavicles, delayed dental development and loose teeth. Hand radiographs performed four years before discovery of the syndrome showed that most ivory and cone-shaped epiphyses disappeared with time. These age-related phenomena are similar to those of Seckel syndrome. Transmission is likely to be autosomal recessive. *Author : Dr P.N. Kantaputra (June 2003)*.
