Mucolipidosis II

A term male infant, born to a 20-year-old primigravida, was admitted for respiratory distress. A prenatal ultrasound showed shortened long bones. The parents were orthodox Jews and there was history of second degree consanguinity. A deceased paternal cousin was diagnosed with mucolipidosis. Birthweight (2175 g), length and head circumference were below the third percentile. On physical examination, he had prominent forehead with large fontanelle, low set ears, prominent eyes, telecanthus, maxillary hypoplasia, gingival hyperplasia, narrow chest, distended abdomen, short limbs, bowing of the lower extremities and generalized hypotonia.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Insights and Images Source Type: research