Table 1.
Clinical and radiologic features of infants born to mothers affected with SLE
| Clinical features | Costa et al15 Skeletal dysplasia meeting 1993 Chitayat et al19 | Mansour et al20 | Elcioglu et al21 | Elcioglu et al21 | Austin-Ward et al22 | Kelly et al23 | Kozlowski et al24 | Kozlowski et al24 | Shanske et al25 | Chitayat et al19 | Chitayat et al19 | Tim-aroon et al26 | Roy et al27 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gestational age | 29 weeks | 25 weeks dizygotic twin | Still born at 36 weeks | Still born at 24 weeks | 33 weeks | 33 weeks+5 days | 7 months | Term | 36 weeks | IUFD at 21 weeks | 35 weeks | 37 weeks | Term |
| Gender | Female | Male | Male | Male | Female | Male | Male | Male | Male | Male | Male | Male | Male |
| Parental ethnic origin | Sri Lanka | West Indian | Black African | Black African | Chilean | African American | Cape town | Cape Town | Dominican republic | German | Caucasian | Thailand | Indian Hindu |
| Consanguinity | Not consanguineous | Not consanguineous | Not consanguineous | Not consanguineous | Not consanguineous | Not reported | Not consanguineous | Not consanguineous | Not consanguineous | Not consanguineous | Not consanguineous | Not consanguineous | |
| Maternal disease | SLE diagnosed prenatally | SLE diagnosed postnatally | SLE | SLE | SLE diagnosed at 16 years | SLE diagnosed postnatally | SLE diagnosed in early adulthood | SLE | SLE diagnosed postnatally | SLE | SLE | SLE | SLE diagnosed postnatally |
| Medications in pregnancy | Prednisone | None | Intermittent steroid use | • Prednisone • Aspirin |
• Hydroxychloroquine • Aspirin • Prednisolone |
Not applicable | Chloroquine Prednisone | • Quinine • Chloroquine • Epanutin |
• Prednisone • Azathioprine • Hydroxychloroquine sulfate • Methyldopa • Amlodipine |
Prednisone | • Prednisolone • Fraxiparin |
No medications | |
| Mother’s antibodies | • Positive anti-Ro and anti-La antibodies • Positive anti-RNP antibodies • Positive ANA |
Not reported | Not reported | Not reported | • Positive ANA • Positive anticardiolipin antibodies • Positive ENA • Positive RNP • Positive anti-Ro • Positive anti-dsDNA |
Positive ANA Positive RNP Negative for Sm, Ro, La and dsDNA antibodies |
Not reported | Not reported | • Positive ANA • Positive anti-RNP antibodies • Positive anti-RO and anti-LA antibodies |
Not reported | Not reported | • Positive ANA • Positive anti-RO and anti-La antibodies • Positive anti-RNP • Positive anticardiolipin • Positive anti-dsDNA |
• Positive ANA • Positive anti-SM antibodies • Positive anti-RNP • Positive anti-Ro antibodies |
| Pregnancy history | Not reported | Uneventful | Anatomy scan showed nasal hypoplasia, short long bones (below third centile), a sacral abnormality and polyhydramnios | • Maternal flare-up of SLE renal failure, hypertension and neurologic impairment • Anatomy scan showed femoral length below third centile |
Not reported | No prenatal care before 30 weeks gestation | Not reported | Epilepsy | UTI | High blood pressure Anatomy scan showed short long bones and an abnormal head shape | Anatomy scan showed discrepancy of 4 weeks in femoral length and 2 weeks in humeral length | Not reported | Uneventful No exposure to infection |
| Birth weight | Below third centile | 820 g (50%) | 1485 g (below fifth centile) | 190 g (below fifth centile) | 1500 g | 1.8 kg | 2020 g | 3080 g | 2176 (25th centile) | 127 g | Not reported | 2970 g (50th centile) | 2459 g (10th–25th centile) |
| Birth HC | Not reported | Not reported | 31cm (10th centile) | 16 cm (below fifth centile) | Not reported | 30.5 cm | 33 cm | 38 cm | 33 cm (50th centile) | Not reported | Not reported | 35 cm (75th centile) | 33 cm (50th centile) |
| Birth length | Not reported | 27.5 cm (below fifth centile) | 20.7 (below fifth centile) | 39.5 cm | 42 cm | 33 cm | 34 cm | 42 cm (below 10th centile) | Not reported | 46 cm (50th centile) | 45 cm (10th centile) | 42.5 cm (below 10th centile) | |
| Pattern of stippling | Stippling at: • The proximal femoral epiphyses • Both heels |
Stippling at: • The lumbosacral spine • The proximal end of second metacarpals |
Stippling at: • The laryngeal cartilage • Anterior and lateral to the vertebral bodies • The proximal femora • The elbows • The ends of the first, second, third and fourth metacarpals • The tarsal bones and the proximal ends of the first, second and third metatarsals |
Stippling at: • The laryngeal cartilage • The anterior spinous ligament • The anterior part of the vertebral body • The distal end of the humeri and proximal ends of the femora • The tarus |
Stippling at: • Sacrococcygeal region • Heels |
Stippling at • The right proximal humerus • Sacrum • Distal phalanges • Tarsal centers |
Stippling at • The tarsal regions • Spine |
Stippling at: • Epiphyses of the knees • Tarsal regions • The pine • Left wrist and terminal phalanges |
Stippling at: • Vertebral bodies • Carpal bones and phalanges • The shoulders and hips • The elbows and knees • All of the tarsal bones and phalanges |
Stippling at: • The vertebral column • The sacral ossification centers |
Multiple stippled epiphyses | Stippling at: • The proximal humeri • Elbows • Metacarpals • Hips • Knees • Vertebrae |
Stippling at: • The shoulders • The elbow • The hips • The knee joints • Anterior arch of foramen magnum |
| Vertebral body defects | Not reported | Sagittal clefts | Sagittal clefts of several upper thoracic vertebral bodies | Coronal clefts | Not reported | Not reported | • Round and irregular • Anterior wedges |
Hypoplasia and dysplasia of vertebral bodies | • Decreased ossification • Small vertebrae with vertical clefts |
Nor reported | Not reported | • Non-ossification of the vertebral bodies of cervical spines • Partially ossified thoracic and lumbosacral vertebral bodies • Wedge-shaped midthoracic vertebrae • Sagittal cleft of lumbar vertebrae |
• The spine exhibited minimal ossification • Coronal clefts of the vertebral bodies |
| Other radiologic findings | None | • Tiny distal phalanges • Sort second metacarpals |
• Short long bones (below fifth centile) • Pronounced humeral shortening • Poorly ossified skull vault |
• Short long bone (below the fifth centile) • Poor ossification of the vault • Short first metatarsals • Short third and fourth metacarpals |
Not reported | • Brachydactyly • Deformity of the proximal phalanges of the first and second digits • Deformity of the proximal phalanx of the great toe |
• Generalized osteopenia • Hypoplastic distal phalanges |
Short dysplastic terminal phalanges | • Short tibias • Unusual cartilaginous extensions from the tibial growth plate into the upper tibias |
• Bell-shaped chest • Mild bowing of the tibiae and femora • Shortening of the middle phalanges, the first metacarpal and the proximal phalanx of the thumbs bilaterally • The second, third and fourth distal phalanges bilaterally showed broadened tufts with proximal tapering • Increased density at the bases of the third distal phalanges |
Asymmetric femur length | • Rhizomelic shortening of extremities • Metaphyseal flaring in humerus and femur |
|
| Facial features | • Flattened nose • Skin tag on the left cheek |
• Nasal hypoplasia • Depressed nasal bridge • Anteverted nares • Bilateral alar grooves |
Poorly developed nasal bridge | • Poorly developed brow ridges • Depressed nasal bridge • Nasal hypoplasia • Large philtrum • Thin pinnae • Prominent occiput |
• Small ears • Upward-slanting palpebral fissures • Midface hypoplasia • Short columella |
• Narrow face • Prominent ears • Mandibular prognathism • Crowded teeth |
• Prominent forehead • Simple ears • Midface hypoplasia • Depressed nasal bridge • Micrognathia |
• Upward palpebral fissures • Epicanthal folds • Midface hypoplasia • Depressed nasal bridge • Hypoplastic nasal bone • Anteverted nares |
• The nose was flat • The chin was prominent |
• Broad low nasal bridge • Long philtrum • Thin upper lip • Micrognathia |
• Flattened nasal bridge • Hypoplasia of the nasal bone • Midface hypoplasia • Thin upper lip • Long/smooth philtrum |
• Midface hypoplasia • Depressed nasal bridge • Anteverted nares • Cataracts in both eyes |
|
| Skin rash | Lupus facial rash | Not reported | Not reported | Not reported | Erythematoviolaceous, scaly facial rash | Lupus rash over the neck, wrists, ankles and anterior thorax | Not reported | Not reported | Not reported | Not reported | Not reported | Erythematous lupus rash over face, trunk and extremities | Not reported |
| Musculoskeletal exam | Not reported | Brachydactyly with drum stick swelling | • Symmetrical, mild limb shortening • Short fingers and camptodactyly • The toes overlapped with hypoplastic nails on the feet |
• The limbs are slightly short • Short, malpositioned fingers • Underdeveloped right palmar creases |
Not reported | • Generalized hands brachydactyly • Short first, second and fourth proximal phalanges |
Pectus excavatum | • Rhizomelia of the upper and lower limbs • Brachydactyly • Talipes equinovarus • Short and bell-shaped thorax |
• Rhizomelic shortening of the arms and legs • Bilateral brachydactyly of the second and third fingers |
Short limbs | • Small thorax • Pectus carinatum • Wide internipple distance • Mild rhizomelia of the upper and lower extremities • Decreased U/L segment ratio • Severe kyphosis of the thoracic spine |
• Barrel-shaped chest • Proximal shortening of both the upper and lower limbs |
|
| Developmental history | Normal | Normal development at 15 months | Not reported | Not reported | Not reported | Not reported | Intellectual delay | Developmental delay | Mild psychomotor delay with borderline cognitive function | Not reported | Normal | Appropriate for age | Not reported |
| Growth parameters | Proportionally small | Not reported | Not reported | Not reported | Not reported | At 35 months • Weight and height below fifth centile • HC was below 10th centile |
Not reported | Not reported | Height and weight below third centile | Not reported | At 5 months of age: • Height was 54.5 cm (−4.5 SD) • Weight 6.6 kg (25th centile) • HC 41.5 cm (40th centile) |
• Progressive kyphosis • At the age of 3 years: 1. Height 80 cm (below third centile) 2. Weight 11.4 kg (third centile) 3. HC 49 cm (50th centile) |
Not reported |
| Chromosomal analysis | Not reported | 46, XY | Not performed | Not performed | 46, XX | 46, XY | 46, XY | 46, XY | Not reported | Not reported | Not reported | 46, XY | Not reported |
| Metabolic work up | Not reported | Not reported | Not performed | Not performed | Not reported | VLCFA normal | Not done | Not done | • Normal plasmalogen level • Normal VLCFA • Normal total plasma lipids • Normal phytanic acid level |
Not reported | Not reported | • Normal VLCFA • Normal plasmalogen |
• Normal plasmalogen • Normal VLCFA • Normal phytanic acid |
| Antibodies level | Not reported | Not reported | Not reported | Not reported | Not reported | Positive ANA Positive anti-RNP |
Not reported | Not done | Not reported | Not reported | Not reported | • Positive anti-Ro and anti-La antibodies • Positive anti-RNP • Positive ANA antibodies |
Not reported |
Abbreviations: ANA, antinuclear antibody; dsDNA, double-stranded DNA; HC, head circumference; IUFD, intrauterine fetal death; RNP, ribonucleoprotein antibodies; SLE, systemic lupus erythematosus; UTI, urinary tract infection; VLCFA, very long chain fatty acid.