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

Costa, Larissa Sampaio de Athayde; Zandona-Teixeira, Aline C.; Montenegro, Marilia M.; Dias, Alexandre T.; Dutra, Roberta L.; Honjo, Rachel S.; Bertola, Debora R.; Kulikowski, Leslie D.; Kim, Chong A.

doi:10.1186/s13039-015-0142-7

Molecular Cytogenetics

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

NA - not applicable.

Back to article page

ISSN: 1755-8166

Contact us

General enquiries: journalsubmissions@springernature.com