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
Erythrokeratodermia
Neuropsychiatric Disorders
progressive symmetrica
Associated with Streptococcus
Bronchiectasis
ichthyosis Laron syndrome type 2
infections
Paediatric Autoimmune Disorders
trisomy Chromosome 22
bronchiectasis and sinusitis
Erythrokeratodermia
Associated with Streptococcus
Dextrocardia
symmetrica progressiva
Erythrokeratodermia variabilis
LTD 2
infections Duplication 22
Kartagener syndrome
ichthyosis
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
pneumonia
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
Antigen-peptide-transporter
Shprintzen-Goldberg omphalocele Pelizaeus-Merzbacher like brain
deficiency Erythroplakia
syndrome
sclerosis
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
syndrome
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
cryptorchidism
stature Subglottic bar
lower extremities Trisomy 2q37
Addison disease and cerebral Esophageal atresia associated Subglottic bar congenital heart and arthrogrypotic changes in the
sclerosis
anomalies
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
syndrome
lower limbs Trisomy 3q13 2 q25
Esophageal duodenal atresia
Pelvic hypoplasia with lower limb
Adrenomyeloneuropathy
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
deficiency
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
atrophy
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
penis
Penttinen type Progeroid
(5p13 or 14-pter)
BSPDC ESTH FECD2
syndrome Trisomy 5pter
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