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


Mediastinal dextraposition, ventricular septal defects, Patent ductus arteriosus


Tonsillitis, otitis media,conjunctivitis, urinary tract infection


(* features present in our case report)