PBS Subject | Subject 1 | Subject 2 | Subject 3 | Subject 4 | |||||
---|---|---|---|---|---|---|---|---|---|
Current Age, years | 29 yrs | 25 yrs | 51 yrs | 7 yrs | |||||
Prenatal History (Gestational age at birth, weeks) | Oligohydramnios, multiple fetal bladder aspirations performed | Oligohydramnios | N/A (born at 40 weeks) | Oligohydramnios | |||||
Stage of Life | Pediatric | Adult | Pediatric | Adult | Pediatric | Adult | Pediatric | Adult | |
PBS RUBACE Phenotype | Renal | Renal dysplasia | ESRDb s/pc renal transplant | Renal dysplasia requiring peritoneal dialysis | ESRD s/p cadaveric renal transplant | Obstructive uropathy requiring cutaneous ureterostomy | CKDa stage 3 | Normal renal function | Â |
Ureteral | Bilateral VUR with bilateral ureteral reimplantation, urethral obstruction requiring dilation |  | Right VUR treated with bilateral tapered ureteral reimplantation |  | Bilateral ureterovesical junction obstruction necessitating bilateral ureterostomies and bilateral ureteral reimplantation × 3, no VURd present |  | Bilateral VUR with spontaneous resolution |  | |
Bladder | Large bladder capacity with urachal diverticulum, vesicostomy and clean intermittent catheterization |  | Large capacity bladder, cutaneous continent vesicostomy, clean intermittent catheterization |  | Small capacity bladder (40-50 cc at 4.5 years of age) necessitating conduit diversion at age 6 | Ileal conduit | Large capacity bladder s/p urachal diverticulectomy and clean intermittent catheterization |  | |
Abdominal Musculature | Severe laxity and wrinkling | Â | Laxity | Mesh abdominal closure after Transplantation | Laxity | Right large direct and indirect inguinal hernia repair | Laxity | Â | |
Cryptorchidism | Bilateral intraabdominal non-palpable testes (bilateral orchiopexy) | Â | Bilateral inguinal testes (left orchiopexy and right orchiectomy) | Â | Bilateral undescended testes (bilateral orchiopexy) | Right orchiopexy; recurrent large hydroceles | Bilateral non-palpable testes (bilateral orchiopexy) | Â | |
Extra-genitourinary: Gastrointestinal | Nissen and Gastrostomy tube for GERDe, Constipation | Â | Malrotation, duodenal perforation, Nissen and gastrostomy tube for GERD, Constipation | Â | Â | Constipation | Constipation | Â | |
Extra-genitourinary: Respiratory | Ventilator dependent at birth | Reactive airway disease | Ventilator dependent in infancy | Â | Right Upper lobe pneumonia in first month of life | Normal | Normal | Â | |
PBS RUBACE Severity Score (range 0–31) and PBS category | 22, Syndromic PBS | 24, Syndromic PBS | 14, Isolated PBS | 13, Isolated PBS | |||||
OPDSD Phenotypes | Craniofacial | Craniosynostosis, Skull base sclerosis, Prominent supraorbital ridge, full cheeks, hypodontia, micrognathia | Prominent supraorbital ridge, down slanting palpebral fissures, proptosis, ocular hypertelorism, hypodontia, micrognathia and facial asymmetry (Pierre Robin Sequence) | Normal | Normal | ||||
Deafness | Absent | Congenital hearing loss bilaterally (hearing aids), recurrent otitis media and PET | Absent | Absent | |||||
Cleft Palate | Absent | Yes, Bilaterally surgically corrected | High arched palate | Absent | |||||
Thorax | Pectus carinum, Irregular ribs (flaring of the anterior ribs bilaterally) | Pectus carinum, Irregular ribs (absent T12 ribs bilaterally) | Normal | Normal | |||||
Heart | Atrial Septal Defect | Atrial Septal Defect | Normal | Normal | |||||
Omphalocele | Absent | Absent | Absent | Absent | |||||
Scoliosis | Lumbar Levoscoliosis, non-surgical | T5-L4 Kyphoscoliosis s/p Posterior Spinal Fusion and L3-pelvis fusion (residual 38° thoracic levoscoliosis and 88° thoracolumbar kyphosis) | Mild, non-surgical | Not present | |||||
Limbs/Digits | Bilateral genu vaigum S/P bilateral distal femoral osteostomies, Short Achilles tendon, Broad thumbs, 2 nails on right 3rd toe, Hammer shaped toe, wide spaced toes, Hypoplastic distal phalanges | Short proximally placed thumbs, hypoplastic distal phalanges, Short Achilles tendon, hypoplasia of the great toe, long second toe | Hypoplastic distal phalanges, hypoplasia of the great toe | Hypoplastic distal phalanges, hypoplasia of the great toe | |||||
CNS | Hydrocephalus S/P shunt X 2, Seizures | Normal | Normal | Normal | |||||
Mentation | ADHDf treated with concerta | Moderate Developmental Delay | Normal | Developmental Delay | |||||
Other Anomalies | Hypotonia, thrombocytopenia | Â | None | None |