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Flashcards in Genoderms Syndrome Deck (257)
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211

Which two types of Waardenburg have deafness?

Type II and IV (MITF, and SOX, respectively)

*stuff socks/mittens in your ears

212

Which type of Waardenburg associated with Hirschsprung disease

Type IV (SOX mutation)

213

Waardenburg with upper limb abnormalities

Type III

214

Aplasia cutis associated with what genoderm

Dominant Dystrophic EB (Bart Syndrome)

215

Dystopia canthorum

Wardenburg (especially type I)

216

Dystopia canthorum
Synophrys
Broad nasal root
Heterochromia iridis

Waardenburg (Type I) - also obvious see a white forelock

217

Waardenburg type one gene defect

PAX3

*PAX MIT(tens) PAX SOx

218

Which two types of Waardenburg have deafness?

Type II and IV (MITF, and SOX, respectively)

*stuff socks/mittens in your ears

219

Which type of Waardenburg associated with Hirschsprung disease

Type IV (SOX mutation)

220

Waardenburg with upper limb abnormalities

Type III

221

Gene mutation in Pachyonychia type I

K6a/16

222

Gene mutation in Pachyonychia Type II

K6b/17

223

Jadassohn-Lewandowsky

Pachyonichia Type I (K6a/K16)

224

Jackson-Lawler

Pachyonychia Type II

225

Dystrophic nails, palmoplantar keratoderma, oral leukokeratosis (benign)

Pachyonychia Congenita Type I (Jadassohn-Lewandowsky)

226

Name the findings of Pachyonychia Congenita Type I

Jadassohn-Lewandowsky (K6a/K16)
PPK
Nail dystrophy
Oral leukokeratosis

227

Dystrophic Nails
PPK
Steatocystoma
Epidermal cysts
Natal Teeth

Pachyonychia Congenita Type II (Jackson-Lawler)

228

Name the findings of Pachyonychia Congenita Type II

Jackson-Lawler (Type II)
PPK
Nails
Steatocystoma multiplex
Natal teeth
Epidermal cysts

229

Natal teeth

Pachyonychia Congenita Type II

230

Steatocystomas in a genoderm

Pachyonychia Congenita Type II

231

Leiners disease

Chronic seb derm and infections that progress into erythroderma
-defect in C5

232

Chronic seb derm and infections that progress into erythroderma
Defect in C5

Leiners disease

233

Menkes disease is caused by deficiency in what cellular product

Defect in a copper transporter

234

What vascular anomaly is found in Menkes

Tortuous arteries

235

Sparse hair, Pear-shaped nose and cone-shaped epiphyses

Trichorhinophalangeal Syndrome

236

Beaded hair with elliptical nodes along the shaft + KP

Monilethrix, due to defect in hHb1, hHb2

237

Pili trianguli et canaliculi, spun glass hair

Uncombable hair syndrome

238

Hair finding in Uncombable hair syndrome

Pili trianguli et canaliculi "spun glass hair"

239

Fissured tongue, facial palsy, granulomatous cheilitis

Melkersson-Rosenthal syndrome

240

Helical depression of the ear
Linear crease in the ear
Macroglossia
Wilms tumor

Beckwith-Weidman syndrome