Table 1.
Comparison of clinical features in patients with mutations in B4GALT7, B3GALT6, B3GAT3, and our patient
| B4GALT7 (n=4) [Kresse et al., 1987; Faiyaz-Ul-Haque et al., 2004; Guo et al., 2013] | B3GALT6 (n=16) [Nakajima et al., 2013; Malfait et al., 2013] | B3GAT3 (n=5) [Baasanjav et al., 2011] | Our patient | |
|---|---|---|---|---|
| Skeletal Abnormalities | ||||
| Short stature | + (−5.1 SDS*; range −3.6 to −6.3) | + (−5.4 SDS**; range −1 to −9.1) | + (P3 or less) | + (−3.43 SDS) |
| Elbow joint abnormality# | + (4/4) | + (10/15) | + (5/5) | + |
| Dislocated joints | − | + (6/13) shoulder, hip | + (5/5) elbow, shoulder | + elbow, shoulder, hip |
| Joint laxity | + (4/4) fingers, large joints | + (11/14) fingers, large joints¶ | + (5/5) fingers only | + |
| Hip dysplasia/dislocation | NR | + (16/16) dislocation, short ilia | + (number of subjects NR) | + |
| Leg deformity | + (1/4) varus | NR | − | + valgus |
| Broad fingertips/toes | + (4/4) | + (11/16) | + (5/5) | + |
| Foot deformity± | + (4/4) | + (7/12) | + (5/5) | + |
| Kyphoscoliosis | − | + (10/10) before age 2y | − | − |
| Pectus deformity | + (2/2) carinatum | + (4/12) carinatum, excavatum | − | + carinatum |
| Frequent fractures | NR | + (3/3) | − | − |
| Decreased bone density | + (3/4) | + (3/3) | +(number of subjects NR) | − |
| X-ray abnormalities | ||||
| Vertebral abnormality | NR | + (14/14) platyspondyly | + (?/?) | + L1 gibbus deformity |
| Metaphyseal abnormality | + (3/4) | + (13/13) | NR | + |
| Other bony features | Clavicle exostosis | Overtubulatio, trabecular pattern abnormal, delayed bone age | Delayed bone age | Atlantoaxial and atlantooccipital instability; lacy trabecular pattern |
| Cranio-facial features | ||||
| Brachycephaly | NR | NR | + (5/5) | + |
| Prominent forehead | + (4/4) | + (9/10) | − | + (mild) |
| Prominent eyes/proptosis | + (3/4) | + (8/11) | + (5/5) | + |
| Refractive error | + (2/4) esotropia, hyperopia | + (3/4) myopia, retinal detachment | NR | + hyperopia, esotropia, amblyopia |
| Blue sclerae | NR | + (11/14) | NR | − |
| Ear abnormality | + (2/4) | + (2/2) | + (3/5) | + |
| Small mouth | + (3/4) | + (5/10) | + (3/5) micrognathia | + |
| Short/webbed neck | NR | NR | + (5/5) | + |
| Dental abnormalities | + (3/3) | + (3/4) | NR | + |
| Skin/hair findings | ||||
| Hyperextensible skin | + (4/4) | + (9/14) | NR | − |
| Excessive wrinkling | − (2/2) | + (2/4) | NR | + |
| Atrophic scarring | + (3/3) | +(2/2) | NR | − |
| Other | ||||
| Hypotonia | + (4/4) | + (9/16) | NR | − |
| Developmental delay | + (3/4) | + (6/16) | − (0/5) | + mild |
| Cardiovascular abnormality | NR | + (1/16) mitral regurgitation | + (5/5) various | + aortic root/pulm. artery dilation |
*
mean of 4 patients;
**
mean of 15 patients (1 patient data missing);
#
comprises: dislocation, radio-ulnar synostosis, radial/ulnar bowing, subluxed radial head;
¶
one 34 year-old patient had joint contractures that were progressive with age;
±
talipes equinovarus, metatarsus varus, pes planus