Microcephalic Primordial Dwarfism, Montreal Type

Clinical Features

In Montreal Fitch et al. (1970) described a patient with a form of bird-headed dwarfism clearly distinct from Seckel type (see 210600). There were signs of premature senility, namely premature graying and loss of scalp hair and redundant, wrinkled skin of the palms. Other features included mental retardation, ptosis and cryptorchidism. Birth weight was normal. Although some features suggested the syndromes of Werner (277700), Seckel, Hallermann-Streiff (234100), Noonan (163950), etc., the authors considered that differences from all these existed, justifying its being listed as a separate entity.

Inheritance

Smith and McKusick (1970) observed an affected brother and sister and proposed autosomal recessive inheritance.