Table 2. Rare cutaneous and extracutaneous features.
Cutaneous [3, 11] |
Hydrocystomas, hypo/hyperhidrosis, radial folds around mouth, lichenified follicular hyperkeratotic papules, keratotic lesions on palms soles, poliosis. |
Skeletal [3, 11] |
Asymmetry of face, trunk or extremity, prognathism, deviated nasal septum, fusion and sacralisation of vertebrae, spina bifida occulta, valgus deformity, clavicular dysplasias, giant cell tumors, aneurysmal bone cysts, osteochondroma, widening of symphysis pubis. |
Ocular [3, 5, 12] |
Microcornea, keratoconus, cataracts, anophthalmia, heterochromia, ectopia lentis, optic atrophy, retinal neo vascularisation, blue sclera, lacrimal duct cysts, eyelid papillomas |
Oral-Dental-Mucosal [3, 13] |
Cleft lip and palate, tongue cleft, gum hyperplasia Hypoplastic or dysplastic teeth, irregular spacing Facial cleft, maxillary hypoplasia |
Aural [3, 5] |
Asymmetric small deformed ears*, poor cartilage development, auricular appendages, cholesteatoma, hearing defect |
Gastro-intestinal [3, 5, 15] |
Esophageal papillomas, gastroesophageal reflux Exomphalos,* inguinal or epigastrial hernia, Hiatus hernia, Duodenal atresia, intestinal malrotation,* anal stenosis, anteriorly placed anus. |
Renal [3] |
Renal agenesis, hypoplastic kidney, horse shoe kidney, cystic dysplasia, hydronephrosis |
Genital [15] |
Bicornuate uterus, asymmetric labia and vaginal canal, septate hymen |
Neurological[3, 14] |
Agenesis of corpus callosum, meningomyelocele, hydrocephalus, Arnold –Chiari malformation |
Cardiovascular[14] |
Mediastinal dextraposition, ventricular septal defects, Patent ductus arteriosus |
Infections[5] |
Tonsillitis, otitis media,conjunctivitis, urinary tract infection |
(* features present in our case report)