We report a female premature infant with bronchopulmonary dysplasia and Sandhoff disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare disease with unusual presentation of intrauterine growth retardation, premature delivery, and bronchopulmonary dysplasia.

Perturbations of the maternal environment involve an abnormal intrauterine milieu for the developing fetus. The altered fuel supply (depends on substrate availability, placental transport of nutrients and uteroplacental blood flow) from mother to fetus induces alterations in the development of the fetal endocrine pancreas and adaptations of the fetal metabolism to the altered intrauterine envir...

The fetal risk in maternal diabetes mellitus is high [5, 6]. The reasons for fetal macrosomatia are controversially as are those for intrauterine fetal growth retardation and intrauterine fetal death. These mostly happen without prodromes and are feared by all obstetricians. Morphologists have described signs of a so-called chronic placental insufficiency in cases of small for date infants and ...

A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.