Absent navicular with background Kabuki syndrome
Updates to Case Attributes
Kabuki syndrome is a multiple congenital anomalies syndrome often characterized by five cardinal features:
- peculiar facial appearance
- mild to moderate
mental retardationintellectual 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 odorodour, 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 centercentre 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, MDAssociate ProfessorDepartment of Radiological SciencesDavid Geffen School of Medicine at UCLAOlive View - UCLA Medical Center
-<li>mild to moderate mental retardation</li>- +<li>mild to moderate intellectual disability </li>
-</ul><p>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.</p><p>This case was submitted with supervision and input from:<br>Soni C Chawla, MD<br>Associate Professor<br>Department of Radiological Sciences<br>David Geffen School of Medicine at UCLA<br>Olive View - UCLA Medical Center</p>- +</ul><p>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 odour, 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 centre 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.</p><p>This case was submitted with supervision and input from:<br>Soni C Chawla, MD<br>Associate Professor<br>Department of Radiological Sciences<br>David Geffen School of Medicine at UCLA<br>Olive View - UCLA Medical Center</p>
Updates to Quizquestion Attributes
Updates to Study Attributes
Image X-ray (Oblique) ( update )
Unable to process the form. Check for errors and try again.