Kabuki syndrome is a multiple congenital anomalies syndrome often characterized by five cardinal features:

• peculiar facial appearance
• mild to moderate intellectual disability 
• postnatal growth retardation
• skeletal anomalies with joint laxity
• unusual dermatoglyphic patterns

Precious puberty is not a cardinal feature but has been associated with Kabuki syndrome in the literature. This patient has previously been evaluated by genetics and diagnosed with Kabuki syndrome. She has features of precocious puberty (facial acne, adult body odor, scant genital hair) with elevated DHEA and 17-hydroxyprogesterone. The patient also has delayed bone maturation on an X-ray. Notably, the navicular bone is absent in this patient (ossification center for navicular bone appears between 12-24 months in girls and 30-36 months in boys). Currently, there are no standard references to ascertain bone age based on tarsal bones.

This case was submitted with supervision and input from:
Soni C Chawla, MD
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center