Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism.
We describe a 4-year-old boy affected by congenital hypothyroidism (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, pectus carinatum and slight scoliosis, psychomotor delay, growth retardation and a severe hypoplasia of the right cerebellar hemisphere and vermis. Given the finding of unilateral cerebellar pathology this unusual association might be explained by an insult in utero--more environmental than genetic. However, to the best of our knowledge, a relationship between CH and cerebellar anomalies has not been previously reported.
Mauceri
L
L
Ruggieri
M
M
Pavone
V
V
Rizzo
R
R
Sorge
G
G
D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D003409:Congenital Hypothyroidism; D019465:Craniofacial Abnormalities; D006130:Growth Disorders; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male