A maintenance dose of levothyroxine has effectively maintained the euthyroid state and normalized liver function tests despite no immunosuppressive therapy. [ncbi.nlm.nih.gov]

Ring chromosome 18 [r18] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature, and delayed development. [ncbi.nlm.nih.gov]

In the present report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis [ncbi.nlm.nih.gov]

[…] report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis media, aortic regurgitation [ncbi.nlm.nih.gov]

The liver dysfunction was associated with hypothyroidism that resolved with thyroid hormone treatment. While the former combination has been described, the latter has not. [ncbi.nlm.nih.gov]

dysfunction in a patient with ring chromosome 18 syndrome. ( 22947348 ) Ohkubo K....Hara T. 2012 13 Abnormal myelination in ring chromosome 18 syndrome. ( 22290857 ) Benini R....Bernard G. 2012 14 Ring chromosome 18 in a child with febrile seizures. [malacards.org]

The patient was referred to our Unit because of persistent thrombocytopenia and syndactyly, pes planus and a bilateral Babinski sign. The remainder of physical examination revealed curly hair, thin upper lip, broad nasal bridge and tip. [omicsonline.org]

These patchy lesions may indicate demyelination or gliosis rather than hypomyelination. This result differs from previous reports. [ncbi.nlm.nih.gov]