Absent navicular with background Kabuki syndrome

Case contributed by Vien Nguyen

Presentation

3 year old girl with history of Kabuki syndrome and precocious puberty presents with foot/ankle pain and inability to walk for the past 4-5 months. No preceding trauma to the foot or increased warmth, redness, or swelling.

Patient Data

Age: 3 years
Gender: Female

The ossification center for the navicular bone in the left foot has not appeared and is concerning for delayed bone maturation. There is mild to moderate diffuse osteopenia. No abnormal soft tissue calcification. The joint spaces are preserved.

Case Discussion

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

  • peculiar facial appearance
  • mild to moderate mental retardation
  • 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 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

PlayAdd to Share

Case information

rID: 56133
Case created: 13th Oct 2017
Last edited: 25th Oct 2017
Inclusion in quiz mode: Included
Institution: Olive View - UCLA Medical Center

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.