Table 1 Clinical and laboratory features of 14 patients with EXTL3 deficiency2, 3, 4

From: Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Clinical and laboratory features

Number (%) of patients with manifestation

Skeletal

 Platysplondyly

12 (85.7)

 Brachydactyly

10 (71.4)

 Short stature

9 (64.3)

 Kyphoscoliosis

9 (64.3)

 Craniocervical stenosis

7 (50%)

 Pelvis abnormalities (broad ischia, sloping acetabular roof and coxa valga)

8 (57.1%)

Neuromuscular

 Motor neurodevelopment delay

8 (57.1)

 Truncal hypotonia

6 (42.8)

 Seizures

6 (42.8)

Immunohematologic abnormalities

 T-cell lymphopenia

8 (57.1)

 Omenn syndrome

4 (28.6)

 Eosinophilia

6 (42.8)

 Hyper-IgE

3 (21.4)

Facial dysmorphisms

12 (85.7)

Liver cysts

6 (42.8)

Back to article page