Table 1.
Summary of Clinical Characteristics of Individuals with Autosomal-Recessive Mutations in AEBP1
| A-II:1 | B-II:1 | C-IV:6 | C-IV:4 | |
|---|---|---|---|---|
| Citation | this report | this report | Alazami et al.9 | Alazami et al.9 |
| Sex | male | male | female | male |
| Ethnicity | white | white | Middle Eastern | Middle Eastern |
| Age at last evaluation | 35 y | 33 y | 12 y | 24 y |
| AEBP1 variant(s) (NM_001129.4) | c.1470delC; c.1743C>A; compound het | c.1320_1326del; homozygous | c.1630+1G>A; homozygous | c.1630+1G>A; homozygous |
| Protein change (NP_001120.3) | p.Asn490_Met495delins(40); p.Cys581∗ | p.Arg440Serfs∗3 | p.? | p.? |
| Beighton score | 8 out of 9 | 8 out of 9 | 8 out of 9 | unknown |
| Generalized joint hypermobility | + | + | + | + |
| Hip dislocation | hip subluxations reported | congenital hip dislocation, surgically corrected at 18 mo | dislocations reported | unknown |
| Shoulder dislocation | not reported | + | + | unknown |
| Foot deformities | pes planus, hallux valgus, hammer toes | pes planus, hallux valgus, hammer toes | pes planus, hallux valgus, hammer toes | pes planus, hallux valgus, toe deformities |
| Skin hyperextensibility | + | + | + | + |
| Excess skin/skin folding | increased wrinkles on hands and feet (acrogeria-like) | + | + | + |
| Delayed wound healing | + | + | + | + |
| Abnormal scarring | atrophic, widened scars | atrophic, widened scars with hyperpigmentation | hyperpigmented atrophic scars, multiple keloids | unknown |
| Easy bruising | + | + | + | unknown |
| Hernia | not reported | large ventral hernia developed at surgical sites secondary to ruptured bowel | umbilical, ventral, and inguinal | unknown |
| Genitourinary abnormalities | cryptorchidism, surgically corrected at 15 years of age | not reported | not reported | not reported |
| Gastrointestinal abnormalities | motility issues | bowel rupture | not reported | not reported |
| Vascular abnormalities | mitral valve prolapse | mitral valve prolapse, mildly dilated aortic root, bilateral stenosis of the carotids, aortic dilation requiring surgery | normal echo | normal echo |
| Dentition | retains a single baby tooth | not reported | abnormal dental alignment | unknown |
| Facial dysmorphisms | none | micrognathia | low posterior hairline, webbed neck, bilateral ptosis, excess redundant skin on face, large ears, narrow palate | unknown |
| Skeletal anomalies | severe osteopenia involving the hips | hip replacement for severe osteopenia, upper thoracic scoliosis with degenerative disease and facet arthrosis of spine | skull shows ‘copper beaten’ appearance, severe osteopenia, narrowing of the interpedicular distance of the lumbar spines distally, iliac bones are short and squared, long bones of the lower extremities are remodeled | severe osteopenia |
| MRI findings | mild disc bulging at the C4-5 and C7-T1 levels | empty sella | not done | not done |
| Other | delays in walking and acquisition of fine motor skills, impaired temperature sensation, keratoconjunctivitis sicca, piezogenic papules on feet, right distal radioulnar joint dislocation, surgically repaired | elbow bursitis, piezogenic papules on feet, sacral dimple, and hypertriglyceridemia | uncontrolled diabetes mellitus, recurrent cellulitis | none |
+ indicates clinical feature is present.