Table 3 Reported internal and other anomalies in patients with NF1 microdeletions.
| Brain anomalies | Eyes | CHD | Hearing loss | Other | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Kayes et al13 | ASD | Urticaria pigmentosa; hirsutism | ||||||||
| Wu et al28 | Dilated ventricles; Chiari I with hydrocephalus; septum cavum pellucidum | Iris coloboma | Heart murmur | |||||||
| Colley et al9 | FTT; generalised oedema | |||||||||
| Upadhyaya et al6 | PDA | Pelviureteric obstruction; undescended testes | ||||||||
| Leppig et al16 | Lower lid eversion | Aortic dissection | Shawl scrotum; GCM | |||||||
| Tonsgard et al3 | Agenesis of corpus callosum | PS | Accessory nipple; single palmar crease; moles; GCM | |||||||
| Wu et al29 | Callosal dysgenesis | MVP | HT; facial nerve palsy | |||||||
| Valero et al25 | Cerebral chronic inflammatory tumour | Acromegaly | ||||||||
| Van Asperen et al26 | Unilateral hernia | |||||||||
| Rasmussen et al21 | Bilateral sensorineural | Precocious puberty | ||||||||
| Korf et al15 | Chiari I; septum cavum pellucidum and vergae; callosum dysgenesis | |||||||||
| Riva et al23 | Strabismus | PS | Facial nerve palsy; GCM | |||||||
| Lopez‐Correa et al18 | Unilateral deafness | Hypertrichosis; epilepsy | ||||||||
| Dorschner et al10 | ASD; PS | |||||||||
| Oktenli et al20 | Retinal detachment; optic disk drusen | MVP | No facial hair; GCM | |||||||
| Kehrer‐Sawatzki et al14 | Ataxia; hypogonadism | |||||||||
| Venturin et al27 | Strabismus; amblyopia | VSD; mitral insufficiency; HCM | Hearing loss | Umbilical hernia | ||||||
| Our patients | UBO | Exotropia; strabismus | HCM; MVP | Mild hearing loss | GCM |
ASD, atrial septal defect; HT, hypertension; PS, pulmonary stenosis; FTT, failure to thrive; UBO, unidentified bright object; GCM, gynaecomastia; MVP, mitral valve prolapse; VSD, ventricular septal defect; HCM, hypertophic cardiomyopathy; PDA, patent ductus arteriosus.