Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

Congenital exfoliative

Sideroblastic anemia with marrow

erythroderma resistant to

cell vacuolization and exocrine

Brody myopathy

treatment Large vestibular aqueduct syndrome pancreatic dysfunction Trisomy 20pter

Autosomal recessive Brody

Enlarged vestibular aqueduct

myopathy Lethal congenital erythroderma syndrome peculiar facies Telomeric duplication 20p

Bronchial endocrine tumour Erythrokeratodermia Laron syndrome Accelerated skeletal maturation

Pediatric Autoimmune

Neuropsychiatric Disorders

Distal trisomy 20p

Short stature due to growth hormone Associated with Streptococcal

Bronchial carcinoid tumour Darier-Gottron disease resistance

Laron syndrome due to postreceptor

infections Distal duplication 20p

Bronchial neuroendocrine tumour Erythrokeratodermia ataxia defect pandas

Pediatric Autoimmune

Trisomy 22


Neuropsychiatric Disorders

progressive symmetrica

Associated with Streptococcus


ichthyosis Laron syndrome type 2


Paediatric Autoimmune Disorders

trisomy Chromosome 22

bronchiectasis and sinusitis


Associated with Streptococcus


symmetrica progressiva

Erythrokeratodermia variabilis


infections Duplication 22

Kartagener syndrome


Erythrokeratodermia with

Laron type dwarfism 2 Pediatric Crohn's disease Trisomy 22q11

Siewert syndrome

ataxia Laron-type dwarfism Pediatric onset Crohn's disease Duplication 22q11

Dextrocardia bronchiectasis and

Larsen like osseous dysplasia

sinusitis Giroux Barbeau Syndrome

erythrokeratolysis hemalis

dwarfism pediatric CrohnÆs disease Trisomy 22q11 q13

Bronchiectasis oligospermia Ichthyosis Larsen syndrome pediatric Ulcerative colitis trisomy q11 q13 Chromosome 22

Bronchiolitis obliterans organizing Erythrokeratolysis hiemalis


Bronchiolitis obliterans with

ichthyosis Larsen syndrome craniosynostosis Ulcerative colitis pediatric Duplication 22q11 q13

obstructive pulmonary disease Oudtshoorn skin Larsen-like syndrome

Laryngeal abductor paralysis mental

Pelger-Huet anomaly trisomy 26-28 X chromosome

Bronchogenic cyst Keratolytic winter erythema retardation

Laryngeal and pharyngeal

PHA Trisomy 2p

Bronchopneumopathy KWE

hypoplasia with omphalocele Pelizaeus-Merzbacher disease trisomy 2p Chromosome 2


Shprintzen-Goldberg omphalocele Pelizaeus-Merzbacher like brain

deficiency Erythroplakia



Cerebral sclerosis similar to

Duplication 2p

Bronchopulmonary amyloidosis Escher Hirt syndrome Laryngeal cancer

Pelizaeus-Merzbacher disease trisomy 2p13 p21 Chromosome 2

Bronspiegel-Zelnick syndrome Esophageal atresia

esophageal atresia and right

cryptorchidism Bilateral

Laryngeal neoplasm Pellagra Duplication 2p13 p21

intestinal lymphangiectasia

anophthalmia Laryngeal carcinoma Pellagra like syndrome Trisomy 2p13 p21

Arroyo Garcia Cimadevilla Laryngeal web congenital heart Pellagra-like rash with neurologic

Bronze Schilder disease


disease and low stature

manifestations trisomy 2q37 Chromosome 2

Bilateral anophthalmia

Pelvic dysplasia associated with

esophageal atresia and right congenital heart disease and low arthrogrypotic changes in the

Schilder-Addison complex


stature Subglottic bar

lower extremities Trisomy 2q37

Addison disease and cerebral Esophageal atresia associated Subglottic bar congenital heart and arthrogrypotic changes in the



disease and low stature

lower limbs Pelvic hypoplasia

Pelvic hypoplasia and

Duplication 2q37

Esophageal atresia coloboma congenital heart disease and low arthrogrypotic changes in the

Melanodermic leukodystrophy talipes

stature Laryngeal web

lower limbs Trisomy 3

Laryngeal web congenital heart Pelvic hypoplasia with

Siemerling-Creutzfeldt disease Esophageal carcinoma disease short stature

arthrogryposis of lower limbs Trisomy 3 mosaicism

Laryngo onycho cutaneous Pelvic dysplasia arthrogryposis of

AMN Esophageal disorder


lower limbs Trisomy 3q13 2 q25

Esophageal duodenal atresia

Pelvic hypoplasia with lower limb


abnormalities of hands Logic syndrome

Laryngeal and ocular granulation in

arthrogryposis trisomy 3q13 2 q25 Chromosome 3

ALD Esophageal neoplasm indian children Pelvic lipomatosis

Excess of mature unencapsulated

Duplication 3q13.2 q25

X-linked adrenoleukodystrophy Esophageal varices Laryngocele

fatty tissue in the pelvis Trisomy 3qter

Adrenoleukodystrophy Esotropia Laryngomalacia dominant congenital

Laryngo-tracheo-esophageal cleft

Pelvic shoulder dysplasia Telomeric duplication 3q

28A Essential benign fructosuria pulmonary hypoplasia Pelviscapular dysplasia Distal trisomy 3q

Brooke-Spiegler syndrome Hepatic fructokinase deficiency Larynx atresia Pelvis-shoulder dysplasia Distal duplication 3q

Ancell-Spiegler cylindromas Ketohexokinase deficiency Late onset dominant cone dystrophy

late onset Multiple carboxylase

Scapuloiliac dysostosis Trisomy 4

Spiegler-Brooke syndrome Fructosuria


Late onset sepsis in premature

Pemphigus foliaceus Trisomy 4p

Brown syndrome Essential Familial Hyperlipemia infants Pemphigus paraneoplastic trisomy 4q Chromosome 4

Brown-Vialetto-van Laere syndrome Hyperchylomicronemia familial Late onset tylosis (type A) Pemphigus superficial Duplication 4q

Familial hyperlipoproteinemia Focal non epidermolytic

pontobulbar palsy

type 1

palmoplantar keratoderma Pemphigus vulgaris Trisomy 4q

Brucellosis Hyperlipemia essential familial

essential iris atrophy

Iridocorneal endothelial (ICE)

Early onset tylosis (type B) Pena Shokeir syndrome Type 2 trisomy 4q21 Chromosome 4

Rock fever

syndrome Familial tylosis (subtype) Pena-Shokeir syndrome type 2 Duplication 4q21

Progressive essential iris Hyperkeratosis of the palms and Cerebro oculo facio skeletal

Gibraltar fever


soles and esophageal papillomas syndrome Trisomy 4q21

Undulant fever Essential iris atrophy

ICE syndrome essential iris

Latent (type) COFS syndrome Trisomy 4q25 qter

Malta fever

atrophy type

essential iris atrophy type ICE

Congenital (type) Penile curvature trisomy 4q25 qter Chromosome 4

Cyprus fever

syndrome secondary Syphilis Peyronie disease Duplication 4q25 qter

Iridocorneal endothelial (ICE)

Trisomy 5p Complete (5p11-pter)

Bruck syndrome 1

syndrome essential iris atrophy Syphilis primary Penis agenesis

Chromosome 5

Osteogenesis imperfecta with

Chromosome 5 Trisomy 5p

congenital joint contractures Essential thrombocytopenia Syphilis Agenesis of the penis

Complete (5p11-pter)

BRKS1 Essential thrombocytosis Syphilis secondary Penis agenesia trisomy 5p Chromosome 5

Essential tremors nystagmus

Trisomy 5p Partial (5p13 or 14-pter)

Bruyn Scheltens syndrome

and duodenal ulceration

nystagmus and duodenal

primary Syphilis Penoscrotal transposition Chromosome 5

BSG syndrome

ulceration Essential tremors Syphilis tertiary Prepenile scrotum Chromosome 5p- syndrome

nystagmus and duodenal Late-onset Fuchs' endothelial Congenital transposition of the Chromosome 5 Trisomy 5p Partial

Brachioskeletogenital syndrome ulcers Tremors

corneal dystrophy


Penttinen type Progeroid

(5p13 or 14-pter)


syndrome Trisomy 5pter


More magazines by this user
Similar magazines