Table II.
Clinical characteristics of 53 patients with RES.
| Pt ID | Age | Sex | GLH Features | VACTERL Features | Other Brain Malfs | Notes | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Alo | TA | CMS | Vert SD | Cardiac/Renal/GI/GU | Limb | |||||
| RES Without Alopecia or VACTERL (13 patients) | ||||||||||
| 1 | 10m | F | - | 2/5 | - | - | - | - | ||
| 3 | 22m | F | - | - | 1/5 | - | - | - | - | |
| 10 | 26y | M | - | - | 0/5 | - | - | - | - | |
| 11 | 6y | F | - | - | 2/4 | - | - | - | - | Congenital pyriform aperture stenosis |
| 16 | 44y | F | - | - | 0/5 | - | - | - | - | |
| 22 | 7y | M | - | - | NA | Bilateral microtia, aural atresia, L corneal clouding attributed to infection | ||||
| 23 | 2y | M | - | - | 3/5 | - | - | - | - | |
| 26 | 5y | F | - | - | 1/5 | - | - | - | - | Gestational DM |
| 38 | 13m | F | - | - | NA | - | - | - | - | |
| 40 | 9y | F | - | - | NA | - | - | - | - | L corneal clouding attributed to scarring from incomplete eye closure, no TA on exam |
| 42 | 2y | F | - | - | NA | - | - | - | - | |
| 46 | 15y | M | - | - | 2/5 | - | - | - | Urachal cyst | |
| 47 | 16y | M | - | - | 0/5 | - | - | - | ||
| RES with Alopecia (23 patients) | ||||||||||
| 2 | 3y | F | L | - | 3/5 | - | - | - | - | |
| 14 | 5y | M | R | - | 0/5 | - | - | - | Poss MIF-like HPE | |
| 17 | 4y | M | L | - | 3/5 | - | - | - | - | |
| 18 | 7y | F | L>R | - | 3/5 | - | - | - | - | R squamosal CSO s/p surgery, eyebrow tuft |
| 28 | 4y | M | R>L | - | 2/5 | - | - | - | - | |
| 41 | 16m | M | L | - | 2/5 | - | - | - | - | |
| 4 | 22m | M | B | - | 3/4 | - | - | - | - | |
| 6 | 5y | M | B | - | 2/5 | - | - | - | - | Gestational DM. B SN hearing loss. Chordee. |
| 7 | 6y | F | B | - | 4/5 | - | - | - | P PMG | B SN hearing loss |
| 9 | 14y | M | B | - | 2/5 | - | - | - | - | |
| 12 | 4y | M | B | - | 0/3 | - | - | - | - | |
| 13 | 2y | M | B | - | 3/5 | - | - | - | - | |
| 24 | 5y | M | B | - | 2/5 | - | - | - | - | Idiopathic renal failure |
| 25 | 27m | M | B | - | 3/5 | - | - | - | - | Neurofibromatosis with NF1 mutation |
| 27 | 2y | M | B | - | 3/5 | - | - | - | - | |
| 31 | 6y | F | B | - | 2/5 | - | - | - | - | |
| 32 | 5y | M | B | - | 2/5 | - | - | - | - | |
| 34 | 4y | M | B | - | 3/5 | - | - | - | - | |
| 39 | 3y | M | B | - | 3/5 | - | - | - | Gestational DM | |
| 45 | 4y | F | B | - | 3/5 | - | - | - | - | CSO |
| 48 | 9y | M | B | - | NA | - | - | - | - | CSO s/p surgery |
| 51 | 4y | F | B | - | NA | - | - | - | - | |
| 52 | 3y | F | B | - | NA | - | ||||
| RES with Alopecia and Trigeminal Anesthesia (3 patients) | ||||||||||
| 8 | 3y | F | B | B | 4/5 | - | - | - | - | Multi-suture CSO s/p surgery |
| 44 | 31y | M | B | B | 3/5 | - | - | - | - | CSO s/p surgery |
| 53 | 9y | F | B | B | NA | - | ||||
| RES with VACTERL Features (+/− Alopecia) (12 patients) | ||||||||||
| 5 | 5y | F | B | - | 4/4 | - | Duplicated renal collecting system, retro-esophageal cyst | Radial aplasia B | - | TAR syndrome with 1q21.1 deletion |
| 19 | 6y | M | R | - | 1/3 | Y | ASD, VSD, bicuspid AV | Radial aplasia R | - | Posterior skull defect. Possible CSO. |
| 20 | 4y | M | - | - | 1/5 | - | - | PPD L hand | - | Temporal tuft |
| 21 | 3y | M | - | - | NA | - | Absent R kidney, fused/duplicated L kidney | - | - | |
| 29 | 17y | M | R | - | 0/5 | Y | Absent L kidney, PUV | - | - | Gestational DM |
| 30 | 3y | M | L>R | - | 4/5 | Y | Absent L kidney, Hypoplastic AA, VSD | - | - | |
| 33 | 12y | F | - | - | 5/5 | Y | - | - | - | |
| 36 | 19m | F | B | 3/5 | Y | TOF, RSAA, horseshoe kidney | - | |||
| 37 | 4y | F | - | - | NA | - | TAPVR, anal atresia | - | - | |
| 43 | 10m | F | B | - | 2/5 | Y | VSD | - | - | |
| 49 | 23y | M | - | NA | - | - | PPD L hand | - | Temporal tuft, posterior skull defect | |
| 50 | 5y | F | NA | NA | NA | NA | Absent kidney, body wall defect | PPD R foot | - | Mother with pre-existing DM |
| RES with Posterior HPE, Aventriculy and VACTERL Features (+/− Alopecia) (2 patients) | ||||||||||
| 15 | 3y | F | R | - | 1/3 | Y | - | - | Post HPE, AV | Mother with pre-existing DM. Microcephaly. Forme fruste cleft lip. |
| 35 | 2d | M | - | NA | 2/5 | Y | TOF | Fused/duplicated R hallux | Post HPE, AV | Mother with pre-existing DM. Microcephaly. Malformed ears. |
Abbreviations: Alo, Alopecia. TA, trigeminal anesthesia. CMS, composite morphology score. DM, diabetes mellitus. MIF, middle interhemispheric fusion [variant of holoprsoencephaly]. HPE, holoprosencephaly. CSO, craniosynostosis. SN [hearing loss], sensorineural. P PMG, perisylvian polymicrogyria. ASD, atrial septal defect, VSD, ventricular septal defect. [Bicuspid] AV, aortic valve. PUV, posterior urethral valves. [hypoplastic] AA, aortic arch. TOF, Tetralogy of Fallot. RSAA, right-sided aortic arch. TAPVR, total anomalous pulmonary venous return.