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A Plastics Written Board Review > Syndromes > Flashcards

Syndromes Flashcards

(65 cards)

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1
Q

Sturge-Weber

A

Facial capillary malformations (port-wine stain) in trigeminal nerve pattern; can have seizure disorder

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2
Q

Kasabach-Merritt

A

Hemangioma or diffuse hemangiomatosis, profound thrombocytopenia; can present with petechiae, ecchymosis, and bleeding
Tx: vincristine or rapamycin

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3
Q

Maffucci syndrome

A

venous malformations and multiple enchondromas; can be associated with malignant chondrosarcomas and intracranial tumors

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4
Q

Parks-Weber

A

variant of Klippel-Trenaunay syndrome; also has A-V fistulae

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5
Q

Klippel-trenaunay

A

patchy post-wine stains of the lower extremity with lymphatic/venous malformation and hypertrophy

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6
Q

Osler-Weber-Rendu

A

hereditary hemorrhagic telangiectasia on the face, tongue, lips, nasal, and oral mmucosa, conjunctiva, and hands/nails. Autosomal dominant; may present late in life

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7
Q

Parry-Romberg

A

progressive hemifacial atrophy - progressive shrinkage and degeneration of tissues beneath the skin on one side of the face. May also have a patch of scleroderma in the scalp extending down through the mid-face AKA “Coup de sabre”

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8
Q

Apert

A

Craniosynostosis, cleft palate, syndactyly

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9
Q

Treacher Collins

A

mandibulofacial dysostosis, fist and second branchial arch syndrome - lower eyelid colobomas, clefted and hypoplastic zygomas, clefted lateral orbita, hypoplastic mandible, lateral canthal vertical dystopia, antimogolian palpebral fissues, ear deformities, long anterior sideburns, anterior open bite, cleft palate, and macrostomia

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10
Q

Freansceschetti-Zwahlen-Klein

A

AKA treacher collins

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11
Q

Coup de sabre

A

Parry-Romberg

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12
Q

Treatment for Parry- Romberg

A

When changes stabilize:

  • parascapular free flap
  • if onset is when they are young, there may be skeletal changes
  • if facial paralysis: cross-facial nerve grafting followed by micro gracilis flap
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13
Q

Mobius syndrome

A

Cranial nerve 7 and 6

  • tx with muscle microneurovascular transfer
  • # 1 nerve option: masseter
  • less desireable nerve options: hypoglossal (because of tongue function), spinal accessory (trapezius)
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14
Q

Main gene abnormalities seen in craniosynostosis

A 
FGFR2 mutation (Apert, Crouzon syndrome, Pfeiffer syndrome, )
FGFR3 mutation (Muenke syndrome)
TWIST1 mutation (Saethre-Chotzen syndrome)
EFNB1 mutation (Craniofrontalnasal dysplasia)
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15
Q

Deformational plagiocephaly vs. craniosynostosis?

A

The side of the head that is flat on the back will have protrusion of the forehead and the ear will move forward on that side. - initially treated with changing the baby’s positioning and avoiding pressure on the head on the flattened side. helmet therapy may be prescribed.
-ipsi mastoid bulging is lamboid CS

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16
Q

CREST syndrome

A 
Calcinosis
Raynaud syndrome
Esophageal dysmotility
Sclerodactyly
Telangiectasia
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17
Q

Amyloidosis

A

thickening and stiffness of the skin

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18
Q

Deramtomyositis

A

idiopathic inflammatory myopathy with skin and muscle abnormalities. May have rashes of the upper eyelids, hands, and in the shawl distribution; skin is not thickened

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19
Q

SLE

A

butterfly rash, erythematous plaques (discoid lesions);
ulcers; can also be hypercoagulable (antibodies against platelet membrane phospholipids, increasing platelet aggregation)

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20
Q

Poland syndrome

A

due to hypoplasia of subclavian artery from kinking during week 6 of gestation; absence of sternal head of pec major, absence of costal cartilages, hypoplasia or aplasia of breast, deficiency of subcut fat and axillary hair, syndactyly

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21
Q

Mayer-Rokitansky-Kuster-Hauser syndrome

A

Vaginal agenesis- caused by defect in paramesonephric duct development or fusion of urogenital sinus with paramesonephric duct

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22
Q

Kasabach-Merritt syndrome

A

Kaposiform hemangioendothelioma with profound thrombocytopenia. Tx with vincristine

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23
Q

Maffucci’s syndrome

A

enchondromatosis with multiple hemangiomas

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24
Q

von Hippel-Lindau disease

A

hemangiomas of the retina, cerebellum, cysts in abdomen,

- seizure and mental retardation

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25
PHACE syndrome
``` Large facial hemangiomas associated with: Posterior fossa malformations Hemangiomas Arterial anomalies Coarctation of the aorta Eye abnormalities ```
26
Epithelioid hemangioma
rare tumor with borderline malignant potential
27
Sturge-Weber syndrome
large facial port-wine stain with V1 and V2 distribution | leptomeningeal venous malformations, seizures, and mental retardation
28
Klippel-Trenaunay syndrome
patechy post-wine stain on extremity overlying deeper venous and lymphatic malformation with associated skeletal hypertrophy
29
Parkes-Weber
similar to Klippel-Trenaunay but has AV fistulas
30
Bannayan-Zonana syndrome
macrocephaly, multiple lipomas, and hemangiomas
31
Riley-Smith syndrome
pseudopapilledema, microcephaly, vascular malformations
32
Blue rubber bleb nevus syndrome
similar to klippel -trenaunay but with AV fistula
33
Osler-Weber-Rendu
AKA hereditary hemorrhagic telangiectasia - multiple malformed ecstatic vessels in the skin, mucous membranes, viscera
34
Cobb syndrome
port-wine stain on posterior thorax + underlying spinal cord vascular malformation (AVM)
35
Muir-Torre syndrome
AD, onset 50-70, multiple skin tumors (keratoacanthoma, BCC, SCC, adenocarcinoma) also malignancies of colon, ovaries, kidney, bladder, pancreas, and breast.
36
Holt-Oram syndrome
AD, septal defectcs, tetralogy of Fallot, mitral valve, radial longitudinal deficiency
37
VACTERL
vertebral, anal, cardiac, trachoEsophageal, renal, Radial longitudinal deficiency, Lower extremity abdnormaities
38
TAR
thrombocytopenia absent radius syndrome
39
Fanconi anemia
AD, radial longitudinal deficiency
40
Hemifacial microsomia
2nd most common craniofacial malformation Chromosome 8q13 abnormality defect of 1st and 2nd branchial arches
41
Goldenhar syndrome
oculoauriculovertebral spectrum MUST HAVE UPPER EYELID COLOBOMAS hemifacial microsomia + colobomas upper eyelids, epibulbar dermoids, vertebral/rib abnormalities Frontal bossing, low hairline, low-set ears
42
Albright syndrome (Albright-McCune-Sternberg)
``` AD hypocalcemia, hyperphosphatemia, hyperthyroidism, sexual prococity Cataracts, low nasal bridge, short neck short fingers (like a carnie) Cafe au lait spots May have fibrous dysplasia ```
43
Fibrous dysplasia
McCune Albright | premalignant = osteosarcoma
44
Carpenter syndrome
AR polysyndactyly affect hands and feet Bicoronal synostosis, brachysyndactyly, preaxial polydactyly, congenital heart disease, hypogonadism, obesity, umbilical hernia
45
Syndromes associated with cleft palate
``` velocardiofacial syndrome (MC) hemifacial microsomia pierre robin nager stickler's Down's Van der Woude's Waardenburg Apert's Klippel-Feil Fetal alcohol DiGeorge Aplasia Cutis Congenita ```
46
Nager
similar to treacher collins but also with hand anomalies, +Cleft palate, not as often with colobomas,
47
Waardenburg Syndrome
AD | Cleft lip/palate, partchy absence of hair pigmentation, deafness
48
Down's syndrome
brachycephaly, cleft palate, midface hypoplasia, hypotonia
49
Van der Woude's syndrome
AD, variable penetrance Cleft lip/palate and lower lip pits 2nd molars absent syndactyly, abnormal genitalia
50
Parsonage-Turner syndrome
bialateral AIN palsy, partial or complete paralysis of the arm
51
IRF6
van der Woude
52
Trisomy 13
Patau syndrome (cleft palate, rocker bottom feet)
53
FGFR1
Kallmann syndrome (hypogonadotrophic hypogonadism with anosmia, cleft lip and/or palate, renal aplasia/agenesis, dental defects)
54
PTCH1
Gorlin syndrome
55
22q11.2
DiGeorge syndrome, velocardiofacial syndrome
56
CATCH
(cardiac, abnormal facies, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism) - DiGeorge
57
bilateral preauricular pits and small ears
- Branchio-oto-renal syndrome (AD) | - also can be oculo-auriculo-vertebral spectrum
58
CHARGE
coloboma, heart defect, atresia of nasal choanae, retardation of growth or development, genital or GU abnormalities, deafness; 2nd most common syndrome associated with cleft lip/palate (CHD7)
59
Antley-Bixler syndrome
FGFR related, | craniosynostosis, choanal atresia, radiohumeral synostosis
60
Ramsey-Hunt
herpez zoster oticus, affects facial nerve. Tx with steroid, narcotics, and acyclovir
61
Beckwith-Wiedemann syndrome
defect for chromosome 11 | - macrosomia, omphalocele, macroglossia, auricular abnormalities with ear folds
62
Diabetic fetopathy
macrosomia, nephromegaly, hepatomegaly
63
Chromosome 1
van der woude
64
Chromosome 11p15
Beckwith-Wiedemann
65
Adams-Oliver syndrome
has cutis aplasia as part of the syndrome

A Plastics Written Board Review (4 decks)

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