Table 1.
Clinical Findings in CLS Families Carrying LRP4 Mutations
| Family Data | CL-1 | CL-2 | CL-3 | CL-4 | CL-5 | CL-6 | CL-7 | CL-8 | CL-9 | CL-10 | CL-11 | CL-12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Consanguinity | + | + | + | + | + | + | + | + | + | + | - | + |
| No. of affected individuals | 1 | 1 | 3 | 3 | 1 | 2 | 1 | 6 | 2 | 2 | 1 | 1 |
| Mutation | c.547+1G>A | C160Y | D137N | L473F | D529N | D449N | T461P | C1017R | D529N | D529N | c.200-9G>A, c.4959G>C | D137N |
| Origin | Pakistan | Turkey | Egypt | Egypt | Turkey | Turkey | Pakistan | Jordan | Turkey | Turkey | Turkey | Egypt |
| Facial dysmorphism | ||||||||||||
| Prominent forehead | + | - | + | + | - | - | + | + | + | + | + | + |
| Hypertelorism | + | - | + | + | - | - | + | - | + | - | + | + |
| Downsl. palpebral fissures | - | - | + | + | - | - | - | + | - | - | - | + |
| Micro-, retrognathia | + | - | + | + | - | - | - | + | - | - | + | + |
| Teeth findings | ||||||||||||
| Hypodontia | - | - | - | - | - | - | - | - | + | - | ? | ? |
| Malar hypoplasia | + | - | + | + | - | - | + | + | - | - | + | + |
| Enamel hypoplasia | - | - | + | + | - | - | - | - | - | - | ? | ? |
| Early loss of permanent teeth | - | - | + | + | - | ? | - | - | ? | ? | ? | ? |
| Upper limb findings | ||||||||||||
| Typical syndactyly | + | +/− | + | + | + | + | +/− | + | + | - | + | + |
| Short forearms | + | - | + | + | + | + | - | - | - | - | + | + |
| Radius-ulnar synostosis | + | - | + | + | + | + | - | - | ? | ? | + | + |
| Disorganized / missing metacarpals and phalanges | + | + | + | + | + | + | + | + | + | + | + | + |
| Fused metacarpals | + | + | + | + | + | + | - | + | + | + | + | + |
| Nail aplasia | + | +/− | + | + | + | + | + | + | + | - | + | + |
| Lower limb findings | ||||||||||||
| Syndactyly | 2/3 | 2/3 | + | + | 2/3–2/5 | + | + | 1/2/3 | R 2/3 | 2/3 | 1/2 | + |
| Tibia-fibula synostosis | - | - | - | - | - | - | - | - | - | - | - | - |
| Disorganized / missing metatarsals and phalanges | - | - | + | + | +/− | - | + | + | + | - | -/+ | + |
| Nail aplasia /partial | - | - | + | + | +/− | + | + | + | -/+ | - | + | + |
| Kidney anomalies | ||||||||||||
| Agenesis | - | - | - | - | - | - | unilateral | - | bilateral | bilateral | bilateral | - |
| Hypoplasia | bilateral | - | - | - | - | unilateral | - | unilateral | - | - | - | - |
| Ectopic localization | - | - | - | - | - | + | - | + | - | - | - | - |
| Additional findings | ||||||||||||
| Developmental delay | - | - | + | - | - | - | - | - | - | mild gross motor delay | ? | ? |
| Other | bilateral broad hallux valgus anomaly | hypoplastic scrotum | scoliosis, hemivertebrae, mixed-type hearing loss | duplicated distal phalanges of the first and second toe, congenital cataract | pulmonary stenosis, congenital hip dislocation | hypothyroidism | G1: died at first day of life due to bilateral renal agenesis | G2: medical abortion (20. GW), bilateral renal agenesis | medical abortion (20. GW) | pectus excavatum |