Table 6.
Rare phenotypes and other health problems in duplication 17p13.3 patients
| Pt# | MARF | SHFLD | CL/P | Other health problems |
|---|---|---|---|---|
| Group 1 | ||||
| 1 | + | − | − | Flat feet, leg cramps, constipation |
| 2 | − | − | − | BOM |
| 3a1 | − | − | + | Pectus excavatum, hydrocele, pneumonia, BOM |
| 3a2 | − | − | + | BOM |
| 4a1 | − | − | − | |
| 5a1 | − | − | + | BOM |
| 5a2 | − | − | + | BOM |
| 6 | − | + | (+) | Cleft palate only, micrognathia, blepharophimosis, GER, bicuspid AoV, gastrostomy tube, orthopedic surgeries, BOM |
| 7a1 | − | − | − | Achilles lengthening |
| 8a1 | − | − | − | BOM |
| 8a2 | − | − | − | BOM |
| Group 2 | ||||
| 9 | − | − | − | FTT, BOM |
| 10 | − | − | − | Dislocated hip, inguinal hernia, recurrent URI, micropenis |
| 11a1 | − | − | − | Multicystic dysplastic kidney (unilateral) |
| 11a2 | − | − | − | |
| 12 | − | − | − | depression; hypertension; scoliosis with rods; incontinence, hydronephrosis; breast reduction, abdominoplasty, jaw reconstruction; Achilles lengthening |
| 13a1 | − | − | − | FTT, GER, gastrostomy tube, eczema |
| 13a2 | − | − | − | |
| 14 | − | − | − | FTT, GER; later overweight; precocious puberty |
| 15 | − | − | − | Hearing loss; UTI, ureteral reimplantation; sleep apnea; scoliosis; BOM |
| 16 | − | − | − | |
| 17a1 | + | − | − | Hiatal hernia; umbilical hernia; Morgagni hernia, VSD, hemivertebrae; GER, GT, BOM |
| Group 3 | ||||
| 18 | − | − | − | FTT |
| 19 | − | − | − | FTT, GER; gastrostomy tube; pneumonia; BOM |
| 20a1 | − | − | − | BOM |
| 20a2 | − | − | − | FTT |
| 21a1 | − | − | − | endocardial fibroelastosis |
| 21a2 | − | − | − | |
Abbreviations: AoV, aortic valve; CLP, cleft lip and palate; FTT, failure-to-thrive; F/U, follow-up; GER, gastroesophageal reflux; MARF, Marfanoid habitus; BOM, recurrent bilateral otitis media; Pt#, patient number; SHFLD, split hand-foot limb deficiency; URI, upper respiratory infections; UTI, serial urinary tract infections, VSD, ventricular septal defects.