Clinical Characterization of Michelin Tire Baby Syndrome: A Case Report Highlighting Severe Short Stature

Kunze-Riehm syndrome, commonly known as Michelin tire baby syndrome (MTBS), is a rare genetic disease characterized by multiple circumferential skin folds on the limbs and trunk. The exact etiology, mechanism, and prognosis of MTBS remain poorly understood. Symptoms other than the circumferential skin folds, as well as the severity of the condition, vary among cases, ranging from only skin folds to severe neurological complications. Herein, we report a four-year-old Cambodian girl with no past medical history who presented with significant short stature. She exhibited characteristic circumferential skin folds on her limbs, hypertelorism, and a sunken nasal bridge. On her first visit, her height was only 74.5 cm (-6.5 SD). Her mental development was appropriate for her age, and none of her family members exhibited similar symptoms. Over four years of follow-up, the patient showed gradual physical development, reaching a height of 95.9 cm (-5.4 SD) at the age of eight. Physicians must recognize that patients with MTBS can present with significant short stature as part of their symptoms. Additionally, although the diagnosis of MTBS might be delayed in low- and middle-income countries, including Cambodia, possibly due to ambiguous diagnostic criteria and limited access to medical care, regular follow-up is crucial for patients with MTBS due to potential complications and the uncertainty of prognosis.