Abstract

Culler-Jones Syndrome (CJS) is a rare autosomal dominant disorder, caused by heterozygous mutation in the GLI2 gene on chromosome 2q14. The phenotype is highly variable due to incomplete penetrance and variable expressivity. It is characterized by hypopituitarism (mainly growth hormone deficiency) and postaxial polydactyly. Some patients may present with developmental delay, midface hypoplasia, cleft lip/palate, and hypotelorism.
We present the case of a 3-year-old boy with growth failure and mild delayed psychomotor development with a language delay that was referred to the Pediatric outpatient clinic. He was the first son of non-consanguineous parents. On the first appointment, the syndromic appearance of his father stood out as an alarming sign.
On physical examination, the boy had a peculiar facial appearance with hypertelorism, synophrys and prominent ears. He also had thin fingers. He was referred to Genetic consultation for further evaluation. A DNA microarray showed a mutation compatible with Culler-Jones Syndrome. A cranial MRI was performed and revealed an adenohypophysis in the lower limit of normal. Karyotype and endocrine studies (morning cortisol, ACTH, ADH, IGFBP-3, IGF-1, prolactin and thyroid function) were normal.
The child is being followed at neurodevelopmental and endocrinology appointments and currently, he has a language delay, the same dysmorphic features and hypercholesterolemia.
This case is evidenced by the rarity of the diagnosis, emphasizing the importance of the genetic study in cases of delayed psychomotor development and phenotypic changes. Furthermore, a prompt reference to the most relevant specialities in each case allows early intervention and optimize the prognosis of these patients. Familiar counselling is also a virtuous tool for these syndromed patients.

Key words: Culler-jones syndrome, Dysmorphic features