Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

dysmorphism camptodactyly

Epiphyseal dysplasia Fairbank

Patterned dystrophy of retinal

Brain lymphoma

type conical teeth

pigment epithelium

butterfly-shaped pigmentary

Partial Duplication 15q Syndrome

Brain Stem neoplasms Fairbank disease cleft lip and or palate

Macular dystrophy distal trisomy 15q Chromosome 15

Fairbank multiple epiphyseal

Macular dystrophy butterfly-

Brain stem tumor

dysplasia Ectropion inferior

shaped pigmentary Chromosome 15 Trisomy 15q2

Dysplasia epiphysealis

Butterfly dystrophy of retinal

Branched chain ketoaciduria multiplex cleft lip and palate

pigment epithelium trisomy 16p Chromosome 16

Branched-chain alpha-keto acid Epiphyseal dysplasia hearing

Butterfly-shaped pigment

dehydrogenase deficiency

loss dysmorphism Elsching syndrome

dystrophy of the fovea Duplication 16p

Epiphyseal dysplasia

Patterned dystrophy of the retinal

BCKD deficiency

microcephaly nystagmus Blepharo-cheilo-dontic syndrome pigment epithelium

Patterson Stevenson Fontaine

Trisomy 16p

Keto acid decarboxylase deficiency Lowry wood syndrome Clefting


Split-foot deformity with

ectrodactyly and mandibulofacial

Trisomy 16q

MSUD Ovarian cancer epithelial Lagophthalmia cleft lip palate dysostosis

Patterson-Lowry rhizomelic

Duplication 16q

Maple syrup urine disease Ovarian epithelial cancer Laing distal myopathy

dysplasia trisomy 16q Chromosome 16

Branchial arch defects EOC Lambdoid synostosis familial Patterson Lowry syndrome Trisomy 17

epithelial with skin and skeletal

Rhizomelic dysplasia Patterson

Branchial arch syndrome

changes Corneal dystrophy lambdoidal Craniosynostosis Lowry type Chromosome 17 trisomy

Corneal dystrophy epithelial

Patterson's leprechaunoid

Branchial arch syndrome X-linked with skin and skeletal changes Craniosynostosis lambdoidal syndrome Chromosome 17 duplication

Branchial dysplasia mental


Patterson pseudoleprechaunism

retardation inguinal hernia

syndrome Lambert syndrome

syndrome Trisomy 17 mosaicism

Branchio oculo facial syndrome Hing

Lambert-Eaton myasthenic

type CDO syndrome

Corneal dystrophy epithelial

syndrome pavm Trisomy 17p

Branchio-oculo-facial syndrome and short stature Lambotte syndrome

holoprosencephaly and intrauterine

PAVF Duplication 17p

Branchiootic syndrome Epithelio-exfoliative colitis growth retardation Microcephaly Pulmonary AVM

Arteriovenous malformation

trisomy 17p Chromosome 17

BO syndrome 1 Epithelioid sarcoma lamellar Cataract

pulmonary Trisomy 17p11 2

Epithelioma calcificans of

pulmonary Arteriovenous

Branchiootic dysplasia

Malherbe Cataract lamellar

malformation trisomy 17p11 2 Chromosome 17


Epilepsy progressive

Perinuclear cataract Pulmonary arteriovenous fistula Duplication 17p11 2

Branchio-otic syndrome

myoclonic 2 zonular Cataract Pavone fiumara rizzo syndrome

mental retardation bilateral

syndactyly of the 3rd and 4th

Trisomy 17p11.2

Branchio-Oto-Renal Duane

fingers and bilateral partial

hydrocephalus contiguous gene

syndactyly of 2nd and 3rd toes

syndrome Myoclonic epilepsy of Lafora Lamellar ichthyosis type 1

Congenital cataracts

Congenital cataracts mental

retardation bilateral syndactyly of

the 3rd and 4th fingers and

Duplication 17p11.2

Bor-Duane hydrocephalus

bilateral partial syndactyly of 2nd

contiguous gene syndrome Lafora disease Lamellar ichthyosis

and 3rd toes

Syndactyly type 1 with cataracts

Trisomy 17q22

Branchiootorenal syndrome 2 MELF Collodion fetus

and mental retardation trisomy 17q22 Chromosome 17

BOR2 Lafora body disorder Desquamation of newborn pcarp Duplication 17q

Erb type Muscular dystrophy

Posterior column ataxia and

Branchio-skeleto-genital syndrome limb girdle type 2A type 1 Lamellar ichthyosis

retinitis pigmentosa Trisomy 18pter

Brazilian type Acheiropody Erb-Goldflam syndrome Lamellar exfoliation of newborn PCH-1 Distal duplication 18p

Acheiropodia Congenital MG

Myasthenia gravis

Ichthyosis congenita Pontocerebellar hypoplasia type 1 Telomeric duplication 18p

Acheiropody Brazilian type

pseudoparalytica Lamellar recessive ichthyosis PCI deficiency

Obesity due to prohormone

Distal trisomy 18p

Acheiropody Myasthenia gravis congenital Landing disease

convertase-I deficiency Trisomy 18qter

Breast and ovarian cancer Erdheim disease GM1 gangliosidosis PCKD Distal duplication 18q

Breast angiosarcoma Erdheim-Chester disease Landouzy-Dejerine myopathy PKD Distal trisomy 18q

Angiosarcoma of the breast Erdheim-Chester syndrome

Eronen Somer Gustafsson

Landy Donnai syndrome Polycystic kidney disease Telomeric duplication 18q

BRESEK syndrome



Langer-Giedion syndrome PCNSL Trisomy 19pter

BRESHECK syndrome


Erosive pustular dermatosis of

Deletion 8q24.1 Primary lymphoma CNS Distal trisomy 19p

BrightÆs Disease

the scalp Monosomy 8q24.1 CNS Primary lymphoma

primary Central nervous system

Telomeric duplication 19p

Bright disease Erythema multiforme Langerhans cell sarcoma

lymphoma Distal duplication 19p

Brittle bone syndrome lethal type erythermalgia Laparoschisis

Laplane fontaine lagardere

PCO Trisomy 19q

Broad beta disease

broad big toes and ulnar polydactyly

Hirschsprung's disease associated

Primary erythermalgia syndrome Stein-Leventhal syndrome trisomy 19q Chromosome 19

with congenital heart malformation

Hirschsprung's disease associated

with ulnar polydactyly polysyndactyly

of big toes and ventricular septal

Erythromelalgia Large B cell diffuse lymphoma Polycystic ovarian disease Duplication 19q


polysyndactyly of big toes and

ventricular septal defect

Hirschsprung's disease associated

Erythroblastopenia Large cell immunoblastic lymphoma PCOD Trisomy 1q32 qter

with ulnar polydactyly Erythroderma desquamativa

Erythroderma desquamativa of

large-cell immunoblastic Lymphoma PCR Duplication 1q32 qter

Laurence Prosser Rocker syndrome Leiner Large cell lymphoma Primary cortisol resistance trisomy 1q32 qter Chromosome 1

Hirschsprung's disease associated

Large cell lymphoma which

with congenital heart malformation Erythroderma Desquamativum develops after treatment for chronic

broad big toes and ulnar polydactyly of Infancy

diarrhea and failure to thrive

lymphocytic leukemia (CLL) PCTT trisomy 1q42 qter Chromosome 1

broad thumbs

Generalized erythroderma


Richter syndrome Hereditary pancreatitis Duplication 1q42 qter

Tsao-Ellingson syndrome

Desquamative Erythroderma

Generalized erythroderma

Large gyri of cerebrum Chronic pancreatitis Trisomy 1q42 qter


diarrhea and failure to thrive Broad gyri of cerebrum Pearson syndrome

Pearson's marrow-pancreas

Trisomy 2 & 5 pseudomosaicism

Brocq-Duhring disease Erythroderma lethal congenital Pachygyria

syndrome Trisomy 2 mosaicism


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