Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.

Thanatophoric dysplasia (TD) is a lethal form of short-limb skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull. Two types of TD are clinically recognized, TD1 and TD2, mainly distinguished by their radiographic characteristics. The differences between the two are principally observed in the femur, which appears curved in TD1, while it remains straight but with a proximal medial spike in TD2, and are a less severe overall affectation in TD2.

[Galactosemia of early diagnosis with psychomotor retardation].

The case history of a baby girl suffering galactosemia is described. This was due to a deficit of galactose-1-phosphate uridyl transferase, with symptoms during the neonatal period consisting in weight loss, vomiting, jaundice and bleeding syndrome. From the twelfth day of life, a strict diet without galactose was imposed and controlled by measuring galactose and Hb A1 in serum.