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Table 2 Clinical features

From: Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Case Gender Maternal/Paternal age at conception Craniofacial Dermatological Gastroin-testinal/Genitourinary Musculoskeletal Cardiac Otologic/Auditory Ophthalmologic CNS Brain image
1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears Hypopigmented streaks Anteriorly placed anus, Umbilical hernia Normal Patent ductus arteriosus NA Normal Developmental delay Periventricular leukomalacia
2 Female 29y/32y Frontotemporal alopecia, long philtrum, hypertelorism, thin upper lip, anteverted nostrils, sparse eyebrows Normal Normal Normal Normal Unilateral hearing loss Normal Seizures and developmental delay Callosum disgenesy, shortage white matter, rarefied myelinization, kyphosis
3 Male 36y /43y Hypertelorism, flat, broad nasal root, anteverted nostrils, thin upper lip, high-arched palate Normal Inguinal and umbilical hernia Normal Atrial septal defect (aneurysm of interatrial septum) NA NA Hypotonia Normal cranial CT
4 Female 36y/37y Epicanthus, retromicrogna-thia, coarse face, hypertelorism, anteverted nostrils, thin upper lip, frontotempo-ral alopecia Hypopigmented and hyperpigmen-ted streaks Normal Normal Normal Otitis and bilateral hearing loss Hypermetropia and nystagmus Developmen-tal delay, hypotonia Normal MRI
5 Female 37y/NA Hypertelorism, blepharophi-mosis, convex philtrum, high-arched palate, sparse anterior scalp hair Hypopigmented streaks Normal Normal Atrial septal defect Bilateral hearing loss Strabismus, diffuse abnormality of the retinal pigment epithelium Developmental delay Enlargement of the arachnoid space and meningeal artery tortuous
6 Female 34y/33y Hypertelorism, long phlitrum, “Pallister-lip”, upslanting palpebral fissures, sparse eyebrows, macroglossia, bifid uvula Hypopigmented streaks Normal Normal Patent ductus arterious, atrial septal defect, pulmonary hypertension NA NA Developmental delay and hypotonia Thin corpus callosum
7 Male 39y/41y Frontotempo-ral alopecia, hypertelorism, proeminent forehead, long philtrum, sparse eyebrow, flat, broad nasal root, anteverted nostrils, thin upper lip, “Pallister-lip” Hyperpigmented streaks Normal Normal Atrial septal defect Unilateral sensorineural hearing loss Thinning of retinal epithelium Hypotonia and seizures Normal cranial CT
8 Male 31y/NA Upslanting palpebral fissures, ptosis, epicanthal folds, flat, broad nasal root , anteverted nostrils, retromicrogna-thia, long philtrum, frontotemporal alopecia, sparse anterior scalp hair Normal Umbilical hernia Bilateral hip dislocation Atrial septal defect (aneurysm of interatrial septum) NA NA Hypotonia and seizures NA
9 Male 16y/NA Hypertelorism, broad nasal root, cleft lip and palate, Normal Imperforate anus, renal agensis - right side, cryptorchidism Postaxial polydactyly in hands and foot Ventricular septal defect, Double Outlet Right Ventricle NA NA Hypotonia Cranial Ultrasound: periventricular hyperechogenic cyst
10 Female 23y/25y Upslanting palpebral fissures, bitemporal alopecia, “Pallister-lip”, anteverted nostrils, broad nasak root, long philtrum Hypopigmented and hyperpigmented streaks Normal Normal Normal NA Strabismus Developmen-tal delay, hypotonia Cranial ultrasound: normal
  1. NA - not applicable.