Table I. Summary of the 11 reported adults.
More detailed descriptions are contained in Section 3.2 of the text. Adult sequelae suspected to be linked to the VACTERL anomalies are also listed, and the age of diagnosis of each anomaly is listed under the specific anomaly.
| # | Age at study ascertainment (approximate age at VACTERL diagnosis) (y) | Sex | Height (cm) Weight (kg) BMI (kg/m2) |
V | A | C | TE | R | L | Adult sequelae of anomalies | Family history | Genetic testing |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1* | 64 (64) | M | 166 66.4 24.1 |
S1 SBO, mild mid-lumbar dextrotatory scoliosis (20 y) | – | VSD (infancy) | – | Ureteral stricture, numerous episodes of nephrolithiasis (20s) | – | Severe back pain, nephrolithiasis | VACTERL (daughter; Patient 2) | Normal microarray |
| 2* | 35 (34) | F | 156 47.4 19.5 |
Cervico-thoracic scoliosis, dysplastic C7-T3 vertebrae (26 y) | – | – | TEF (infancy) | U: numerous UTIs, though unclear if there is an underlying structural defect (throughout life) | – | Back, shoulder, and neck pain; dysphagia; asthma; recurrent UTIs | VACTERL (father; Patient 1) | Normal microarray |
| 3 | 29 (17) | F | 160 64.4 25.2 |
Mild scoliosis, supernumerary rib; other details unknown (early childhood) | Imperforate anus (infancy) | – | – | U: multiple hospitalizations for UTIs, pyelonephritis; though unclear if there is an underlying structural defect (throughout life) | – | Back pain, constipation, regurgitation, choking, recurrent UTIs | Negative | Not performed |
| 4 | 28 (early childhood) | F | 158 47.6 19.1 |
Multiple thoracic hemivertebrae, vertebral fusions and dysplastic vertebrae, scoliosis (childhood) | Anal atresia (infancy) | Ostium secundum ASD (infancy) | Type B TEF (infancy) | Unilateral renal agenesis (infancy) | Right thumb hypoplasia, bilateral thenar hypoplasia, bony wrist anomalies (infancy) | Constipation, exercise intolerance, hand/wrist pain | Negative | Normal karyotype |
| 5* | 28 (infancy) | M | 178 100.0 31.6 |
Multiple cervical, thoracic, and lumbar vertebral anomalies, including hemivertebrae, block vertebrae, and dysplastic vertebrae; mild kyphosis (5 y) | – | – | Type III TEF (Vogt class- ification) (infancy) | – | – | Severe back pain, tracheomalacia, reactive airway disease | “Collapsing trachea” (mat. uncle, pat. grand-mother); vertebral anomalies (mat. uncle, mat. grandmother, father) | Normal microarray |
| 6* | 28 (18) | F | 155 54.4 22.6 |
Cervical and thoracic block vertebrae, lumbar pedicle dysplasia, scoliosis (childhood) | – | Persistent left superior vena cava (28 y) | Type C TEF (infancy) | – | – | Hip dysplasia, dysphagia, GER, poor esophageal motility, nephrolithiasis | Negative | Not performed |
| 7* | 52 (late 30s) | M | 165 79.4 29.2 |
Cervical and lumbar block vertebrae, cervical and lumbar hemi- vertebrae, lumbar scoliosis (infancy) | Imperforate anus (infancy) | – | – | Horsehoe kidney (infancy) | – | GI obstructions and adhesions, GI bleeding, fecal incontinence, nephrolithiasis | Negative | Normal microarray |
| 8 | 40 (infancy) | F | 166 68.0 24.7 |
Scoliosis; other details unknown (early childhood) | – | – | TEF (infancy) | – | Bilateral radial aplasia (infancy) | Dysphagia, GER, asthma, poor esophageal motility | Unknown congenital malformation (infant born to pat. great- uncle) | U |
| 9 | 42 (32) | M | 176.3 102.3 31.8 |
– | Imperforate anus (infancy) | LV dilatation; aortic enlargement (32 y) | – | Unilateral renal atresia, dysplastic kidney (30 y) | – | Pyelonephritis, GI obstructions | Negative | Not performed |
| 10* | 53 (53) | M | 165 75 26.6 |
C3-C4 block vertebrae, T1-T3 hemi-vertebrae (adolescence) | Imperforate anus/anal atresia (infancy) | – | – | – | Left thenar hypoplasia (infancy) | Neck/back stiffness, constipation | VACTERL (grandson) | Not performed |
| 11 | 39 (22) | F | U | Cervical vertebral fusions (adolescence) | – | – | TEF (infancy) | – | Left thumb agenesis, right postaxial polydactyly (infancy) | Choking, poor esophageal motility | U | U |
A: anal malformations; BMI: body mass index, C: cardiac malformations, F: female; GER: gastroesophageal reflux; GI: gastrointestinal; L: limb malformations; M: male; mat.: maternal; pat.: paternal; R: renal anomalies; SBO: spina bifida occulta; TE: tracheoesophageal fistula; U: unknown; UTI: urinary tract infection; V: vertebral malformations; y: years; +: present; –: absent;
*
: seen in person at the NIH.