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Flashcards in Pediatrics CDB Deck (319):
1

Pituitary Gland: Location?

Sella Turcica

2

Anterior Pituitary Gland

Adenohypophysis

3

Posterior Pituitary Gland

Neurohypophysis

4

Pituitary Gland: Embryology?

Rathke's pouch

5

The most common type of tumor in the pituitary gland in pediatrics

Cranipharyngiomas

6

Definitive diagnosis of Hypopituitarism

Absent or Low levels of Growth Hormone

7

Polyuria (>5cc/k/hr) and polydypsia

Diabetes Insipidus

8

Master Gland

Pituitary Gland

9

Located in Supraoptic nuclei

Vasopressin (ADH)

10

Located in Paraventricular nuclei

Oxytocin

11

Vasopressin Deficiency

Central Diabetes Insipidus

12

Vasopressin insensitive kidneys

Nephrogenic Diabetes Insipidus

13

Most common etiology of central diabetes insipidus

Brain Tumors

14

2nd Most common etiology of central diabetes insipidus

Idiopathic

15

In Diabetes Insipidus, AVP acts on the

Distal Tubules

16

Significant diagnostic result of Diabetes Insipidus

HYPERnatremia

17

Precious Puberty
Polyostotic fibrous dysplasia
UNILATERAL café-au-lait spots

McCune Albright Syndrome

18

The Coast Of Maine TRIAD:

McCune Albright Syndrome:
Precious Puberty
Polyostotic fibrous dysplasia
UNILATERAL café-au-lait spots

19

DOC for McCune Alright Syndrome

Leuprolide acetate

20

21-hydroxylase Deficiency

Congenital Adrenal Hyperplasia

21

Mutation of CYP21A2 on short arm of chromosome 6

Congenital Adrenal Hyperplasia

22

Define Tall Stature?

Taller than 2 standard deviation ABOVE the mean

23

Cerebral Gigantism

Sotos Syndrome

24

Define Short Stature?

More than 3 standard deviation BELOW mean for age and gender

25

Male phenotype of Turner's Syndrome

Noonan Syndrome

26

Pigeon breast
Web neck
Hypertelorism

Noonan Syndrome

27

Most common caused by thyroid dysgenesis

Hypothyroidism

28

Seen in maternal autoimmune disease like Hashimoto's Ds.

Thyrotropin Receptor-Blocking Antibody

29

Most common cause by some form of THYROID DYSGENESIS of which ectopic thyroid is the most frequent

Congenital Hypothyroidism

30

Most common location of congenital hypothyroidism

Base of the tongue or sublingual

31

Earliest sign of congenital hypothyroidism

Prolonged jaundice

32

Earlobe crease + Macroglossia

Beckwith Syndrome

33

Thyroid panel result of Congenital Hypothyroidism

TSH ⬆️
T3 ⬆️
T4 ⬇️

34

Most common cause of thyroid disease in children

Thyroiditis

35

Most common cause of acquired hypothyroidism

Thyroiditis

36

Lymphocytic thyroiditis

Hashimoto's Thyroiditis

37

Autoimmune thyroiditis

Hashimoto's Thyroiditis

38

Components of Triple Screen Test

Beta HCG
Estriol
Alpha Fetoprotein


39

Triple Screen Test aka

Kettering Test
Barts Test

40

Catecholamine secreting tumor of the chromaffin cells

Pheochromocytoma

41

Guthrie Test

Newborn Screening

42

Guthrie Test Includes:

Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
G6PD Deficiency
Galactosemia
PKU
Maple Syrup Disease

43

Prolonged physiologic jaundice + genital edema

Congenital Hypothroidism

44

Female Pseudo-Hermaphroditism

21 Hydroxylase Deficiency
11 alpha-hydroxlase Deficiency
3 beta hydroxysteroid dehydrogenase Deficiency

45

5 alpha reductase deficiency

Male PseudoHermaphrodism

46

Persistent Mullerian Duct Syndrome

Male PseudoHermaphrodism

47

Deficiency of Cortisol

Congenital Adrenal Hyperplasia

48

Classic form of Galactosemia

Galactose-1-phosphate uridyl transferase deficiency (GALT)

49

Episode or chronic hemolytic anemia

G6PD Deficiency

50

Heinz bodies + Reticulocytosis

G6PD Deficiency

51

Mousy or Musty Odor

Phenylketonuria

52

Deficiency of Tetrahydrobiopterin

Phenylketonuria

53

PAH Gene associated with Seizures

Folling's Disease

54

Required to convert Phenylalanine to Tyrosine

Tetrahydrobiopterin

55

Pre-natal diagnosis of defects in phenylalanine hydroxylase deficiency or dihydropterin reductase

DNA Probes

56

Less reliable screening test employs FeCl3 to detect phenylpyruvate

Urinalysis

57

Tyrosine Precursors except:

Tryptophan
Niacin
Serotonin

58

Tyrosinemia Type 1

Fumaryl Acetoacetate Hydroxylase (FAH) deficiency

59

Tyrosinemia Type II

Tyrosine aminotransferase (TAT) Deficiency

60

Tyrosinemia Type III

4-hydroxy-phenylpyruvate dioxygenase (4-HPPD) Deficiency

61

Clinical Manifestation of TYROSINEMIA

Acute hepatic Crisis
Renal involvement
Acute peripheral neuropathy

62

Diagnostic result of Tyrosinemia found in Urinalysis

Succinyacetoacetate
Succinylacetone

63

Most common inborn error of METHIONINE metabolism

Homocystinuria

64

Basic Defect of Homocystinuria

Cystathione synthase deficiency

65

Tx of Homocystinuria

Vitamin B6 (Pyridoxine) 200mg-1g/day

66

Branched chain alpha ketoacid dehydrogenase deficiency

Maple Syrup Urine Disease

67

On Physical Exam:
Hypertonicity
Muscular rigidity
Opisthotonus

Maple Syrup Urine Disease

68

Urine Odor: Sweaty Feet

Glutaric Acidemia (Type III)

69

Urine Odor: Acrid

Glutatic Acidemia (Type III)

70

Urine Odor: Swimming pool

Hawkinsinuria

71

Urine Odor: Boiled Cabbage

Hypermethioninemia

72

Urine Odor: Tom Cat Urine

Multiple Carboxylase Deficiency

73

Urine Odor: Rotting Fish

Trimethylaminuria

74

Urine Odor: Rancid Butter + Boiled Cabbage

Tyrosinemia

75

Peroxisomal Deficiency

Zellweger Syndrome
Infantile Refsum Disease
Adrenoleukodystrophy

76

7-dehydrocholesterol reductase deficiency

Smith-Lemi-Optiz Syndrome

77

Mutation in the Sterol Delta - 7 - Reductase Gene (DHCR7)

Smith-Lemi-Optiz Syndrome

78

Characterized of hypospadias and syndactyly between toes 2 & 3 (fusion)

Smith-Lemi-Optiz Syndrome

79

Hexosamide A Deficiency

Tay-Sachs Disease

80

GM2 Gangliosidosis

Tay-Sachs Disease

81

Cherry-Red Spot with Optic Atrophy

Tay-Sachs Disease

82

Hexosaminidase A and B Deficiency

Sandhoff Disease

83

Coarse granulation in bone marrow histiocytes

Sandhoff Disease

84

Glucocerebrosidase Deficiency

Infantile Gaucher Disease

85

Crumpled Paper/Tissue Appearance

Gaucher Cells

86

Oculomotor Apraxia and Bilateral Strabismus

Infantile Gaucher Disease

87

Spingomyeline Deficiency

Infantile Neimann-Pick Disease

88

Vacuolated Histiocytes (Foam Cells)

Infantile Neimann-Pick Disease

89

Lipogranulomatosis

Farber Disease

90

Ceramidase Deficiency

Farber Disease

91

Horse Cry

Farber Disease

92

CerebroHepatoRenal Disease

Zellweger Disease

93

Pipecolate Oxidase Deficiency

Zellweger Disease

94

Lorenzo's Oil

Adrenoleukodystrophy

95

Kinky or Steely Hair Disease

Menkes Disease

96

Trichopoliodystrophy

Menkes Disease

97

2nd most common Deficiency in Copper-dependent enzyme

Menkes Disease

98

Most common Deficiency in Copper-dependent enzyme

Willson's Disease

99

Pili Torti

Menkes Disease

100

Arylsulfatase A Deficiency

Metachromatic Leukodystrophy (MLD)

101

Fronto-Occipital Demyelination

Metachromatic Leukodystrophy

102

Globoid Cell Leukodystrophy

Krabbe Disease

103

Galactocerebrosidase Deficiency

Krabbe Disease

104

Chromosome 14

Krabbe Disease

105

Pellagra-like Dermatosis

Hartnup Disease

106

Tryptophan Deficiency

Hartnup Disease

107

Phytanoyl-CoA Hydroxylase(Chromosome 10) or Peroxin-7(Chromosome 6)
Deficiency

Refsum Disease

108

Cannot Digest Dairy Products

Refsum Disease

109

Glycogen Deficiency Type 1

Von Gierke's Disease

110

Glucose-6-Phosphate Deficiency

Von Gierke's Disease

111

Galactose 1-Phosphate Uridyl Transferase (GALT) Deficiency

Galactosemia

112

Hypoxanthine guanine phosphoribosyl transferase (HPRT) Deficiency

Lesch-Nyhan Syndrome

113

Clinical Manifestation:
Self injurious behavior
Self mutilation

Lesch-Nyhan Syndrome

114

MOA: Inhibits xanthine oxidase

Allupurinol

115

-Progressive external ophthalmoplegia
-Retinitis pigmentosa

Kearans-Sayre Syndrome

116

Bony Spicule Appearance

Retinitis Pigmentosa

117

Most frequent mitochondrial disease of the perinatal period and early infancy

Leigh Encephalopathy

118

Subacute Periventricular Necrotizing Encephalopathy (SPNE)

Leigh Encephalopathy

119

Most common vasculitis in children

Henoch-Schonlein Purpura

120

Anaphylactoid purpura

Henoch-Schonlein Purpura

121

Vasculitis of SMALL VESSELS

Henoch-Schonlein Purpura

122

Rash describe as palpable purpura on dependent area

Henoch-Schonlein Purpura

123

Mucocutaneous Lymphadenopathy

Kawasaki Disease

124

Polyarteritis nodosa

Panarteritis nodosa

125

Necrotizing vasculitis of small and medium sized vessels

Panarteritis nodosa

126

Vasculitis of large vessels

Takayasu's Arteritis

127

Pulseless Disease

Takayasu's Arteritis

128

Hammer Toes

Friedreich Ataxia

129

Stork Legs

Charcot-Marie-Tooth Disease

130

Cerebellar Hemangioblastomas

Von Hippel Lindau Disease

131

47, XXY

Klinefelter Syndrome

132

45, XO

Turner Syndrome

133

Most common sex chromosome abnormalities in females

Turner Syndrome

134

Paternal microdeletion of Chromosome 15

Prader-Willi Syndrome

135

Happy Puppet

Angelman Syndrome

136

Maternal microdeletion of chromosome 15

Angelman Syndrome

137

Facial nevus flammeus
Earlobe crease

Beckwith-Wiedemann Syndrome

138

Loss of normal peristalsis in the body of the esophagus and failure of the lower esophageal sphincter (LES) to relax in response to swallowing

Achalasia

139

Beaking on barium swallow

Achalasia

140

Nonbilous vomiting starts at 3rd week of life

Hypertrophic Pyloric Sphincter

141

Olive-shaped mass

Hypertrophic Pyloric Sphincter

142

Shoulder sign

Hypertrophic Pyloric Sphincter

143

Double Tract Sign

Hypertrophic Pyloric Sphincter

144

String Sign

Hypertrophic Pyloric Sphincter

145

Triad of Gastric Volvulus

Severe epigastric pain
Inability to pass tube into the stomach
Retching with emesis

146

Retching + Hematemesis

Mallory Weis Tear

147

Bird's Beak Sign

Gastric Volvulus

148

Inverted U Sign

Gastric Volvulus

149

Coffee Bean Sign

Gastric Volvulus

150

Failure to RECANALIZE the lumen after the solid phase of the intestinal development during the 4th and 5th week AOG

Duodenal Atresia

151

BILIOUS VOMITING without abdominal distension usually noted on the 1st day of life

Duodenal Atresia

152

Double Bubble Sign

Duodenal Atresia

153

In duodenal atresia, obstruction usually at

Distal to the ampulla of vater

154

Soap Bubble Sign

Meconium Ileus

155

Egg Shell Pattern

Meconium Ileus

156

Ground Glass appearance in the RIGHT LOWER QUADRANT

Meconium Ileus

157

Most common congenital gastrointestinal anomaly

Meckels Diverticulum

158

Most common cause of lower GI bleeding in children

Meckels Diverticulum

159

Brick Colored Stool

Meckels Diverticulum

160

Most common cause of lower intestinal obstruction in the neonate

Hirschsprung Disease

161

Sausage Shaped Mass

Intussuseption

162

Absence of Meissner and Auerbach Plexus

Hirschsprung Disease

163

Currant Jelly Stool + Colicky Pain

Intussuseption

164

Pellet-Like Stool

Hirschsprung Disease

165

Ribbon-like stool

Hirschsprung Disease

166

Most common cause of INTESTINAL OBSTRUCTION between 3 months and 6 years of age

Intussuseption

167

Coiled Spring Appearance

Intussuseption

168

UTZ: Doughnut or Target Sign

Intussuseption

169

Prolonged elevated levels of conjugated bilirubin after 14th day of life

Neonatal Cholestasis

170

Neonatal infection resulting from inadequate care of the umbilical cord

Omphalitis

171

Most common surgical emergency in neonate

Necrotizing Enterocolitis

172

Most common site of Necrotizing Enterocolitis

Distal Ileum
Proximal Colon

173

Hemoglobin -> Biliverdin

Heme oxygnase
(Metalloporphyrins)

174

Biliverdin -> Bilirubin

Biliverdin reductase
(Phenobarbital)

175

Bilirubin-Albumin Complex -> Conjugated Bilirubin

Glucuronyl transferase

176

Conjugated bilirubin -> Urobilinogen

Beta-glucuronidase

177

Inherited form of non-hemolytic jaundice

Crigler-Najjar Syndrome

178

Autosomal recessive disorder that causes an increase of conjugated bilirubin without elevation of liver enzymes

Dubin-Johnson Syndrome

179

Most common hereditary cause of increased bilirubin

Gilbert-Meulengracht Syndrome

180

Autosomal recessive metabolic disorder affecting enzyme involved in bilirubin metabolism

Lucey-Driscoll Syndrome

181

Non-itching jaundice

Rotor Syndrome

182

Transplacental Infections:

CMV
Rubella
Listeria monocytogenes
Treponema pallidum

183

Predominant Pathogens in Early Onset of Sepsis

Staph. aureus
Listeria monocytogenes
Strep. agalactiae
Pseudomonas aeruginosa
E. Coli
Kliebsiella pneumoniae

184

Capable of causing corneal perforation and blindness

Neisseria gonorrhea
Pseudomonas

185

Classic Triad of Toxoplasmosis

Chorioretinitis
Hydrocephalus
Intracranial calsification

186

Intracranial calsification

TB
Toxoplasmosis
Cisticercosis
Schistosomiasis

187

Pseudoparalysis of Parrot

Osteochondritis

188

Saddle nose vasculitis

Wegeners granulomatosis

189

Spoke like pattern

Rhagades

190

A zigzag scarring often in a dermatomal distribution

Cicatrix

191

Most common clinical manifestation of german measles

Sensorineural hearing loss

192

Blueberry Muffin Lesion

Congenital Rubella

193

Discrete rose-colored spot on soft palate found in congenital rubella

Forscheimer Spot (F Spot)

194

Heterophile NEGATIVE
Most common cause of congenital infection

CytoMegaloVirus

195

Striking enlarged epithelial
Mesenchymal cells with LARGE INTRANUCLEAR INCLUSIONS

CytoMegaloVirus

196

A vesicular rash that is present at birth or appear shortly thereafter

Herpes Simplex

197

Bullneck Appearance

Diphtheria

198

Pharyngeal PSEUDOMEMBRANE

Diphtheriae

199

haEMOPhilus influenza

Epiglotittis
Meningitis
Otitis
Pneumonia

200

Machine gun-like cough

Pertussis

201

Seal-like Cough

Croup

202

Reversible obstruction airway disease involving both the small and large airways

Bronchial Asthma

203

3 components of asthma attack

Bronchospasm
Airway obstruction
Mucus production

204

Common disease of the lower respiratory tract of infants

Bronchiolitis

205

Severe form of pediatric bronchiolitis

Bronchiolitis obliterans

206

Peasoup diarrhea and Rose spots maculopapular rash

Salmonella typhi
(Enteric Fever)

207

Upper airway infection but does not involve the epiglottis

Bacterial Tracheitis

208

Brassy Cough

Bacterial Tracheitis

209

Texas Star

Vibrio Cholera

210

Excessive methylmalonic acid in the urine

Vitamin B12 (Cobalamin) Deficiency

211

Most common hematologic disease of infancy & childhood

Iron Deficiency Anemia

212

Most common familial and congenital abnormality of the red cell membrane

Hereditary Spherocytosis

213

In hereditary spherocytosis, what is the cytoskeletal protein defects

SPECTRIN

214

Hamarthrosis

Factor VIII Deficiency

215

Disease of Royalty

Factor IX Deficiency

216

Most common hereditary bleeding disorder

Von Willebrand Disease

217

Factors affecting Vitamin K Deficiency

Factors II, VII, IX, X

218

Jaundice within first 24hrs

ABO Hemolytic Disease of the Newborn

219

Most common cause of hemolytic disease of the newborn

ABO Incompatibility

220

Increased erythrocyte adenosine deaminase

Diamond Blackfan Syndrome

221

Congenital Hypoplastic Bone Marrow

Diamond Blackfan Syndrome

222

Most common malignant neoplasm in childhood

Leukemias

223

Most common childhood malignancy

Acute Lymphoblastic Leukemia

224

Predominant neonatal / congenital leukemia

Acute Myelogenous Leukemia

225

Positive Myeloperoxidase

Acute Myelogenous Leukemia

226

Reed Stenberg Cells

Hodgkin Disease

227

Owls Eye Cell

Hodgkin Disease

228

Lacunar Cells

Hodgkin Disease

229

Most common type of Hodgkin Disease

Nodular Sclerosing

230

Most number of Reed Sternberg Cell

Mixed Cellularity

231

Worst Prognosis of Hodgkins Disease

Lymphocytic Depletion

232

Philadelphia Chromosomal Translocation

CML

233

Most common EXTRACRANIAL tumor of CHILDHOOD

Neuroblastoma

234

Most frequent diagnosed tumor in infants

Neuroblastoma

235

Will cross the midline

Neuroblastoma

236

Does not cross the midline of the abdomen

Willm's Tumor

237

Most common EXTRACRANIAL tumor in ADULTS

Pheochromocytoma

238

Homer Wright Pseudorosette

Neuroblastoma

239

Salt and Pepper Chromatin

Neuroblastoma

240

Most common PRIMARY BONE TUMORS in CHILDREN

Osteosarcoma

241

Most common PRIMARY BONE TUMORS in ADULTS

Multiple Myeloma

242

Spindle-Cell Producing Osteoid

Osteosarcoma

243

Metaphysis of long bones

Osteosarcoma

244

Diaphysis of long bones

Ewing Sarcoma

245

Onion-Skinning

Ewing Sarcoma

246

Blue Cells

Ewing Sarcoma

247

Moth-Eaten Appearance

Ewing Sarcoma

248

Primary tumors arising from the Chest Wall of Ewing Sarcoma

Askin Tumors

249

Most common pediatric soft tissue tumor

Rhabdomyosarcoma

250

Most common SOFT TISSUE tumor in vaginal (grape-like mass) of pediatrics

Botyroid

251

Most common INTRA-OCULAR tumor in childhood

Retinoblastoma

252

Flexner-Wintersteiner Bodies/Rosettes

Retinoblastoma

253

Most common primary malignancy LIVER neoplasm in CHILDREN

Hepatoblastoma

254

Most common primary malignant LIVER neoplasm in ADULT

Hepatoma

255

Most common chronic glomerular disease WORLWIDE

IgA Nephropathy

256

Most common cause of gross hematuria in children

IgA Nephropathy

257

Most common hereditary nephritis

Alport's Syndrome

258

Crescents and LUMPY BUMPY DEPOSITS

Acute PSGN

259

Most common of bacterial spontaneous PERITONITIS

Nephrotic Syndrome

260

Most common nephrosis in childhood

Idiopathic Nephrotic Syndrome

261

Nephroblastoma

Wilm's Tumor

262

WAGR Syndrome

Wilm's Tumor
Aniridia
Genitourinary anomalies
mental Retardation

263

Most severe form of neural tube defect

Meningocele

264

Fluctuant mass that transilluminates

Meningocele

265

Most severe form of dysraphism involving the VERTEBRAL COLUMN

Myelomeningocele

266

Failure of closure of the ANTERIOR (ROSTRAL) NEUROPORE

Anencephaly

267

Most common location is occipital but for Asians it is in the FRONTAL or NASOFRONTAL areas

Encephalocele

268

Most common cause of OBSTRUCTIVE or noncommunicating hydrocephalus

Aqueductal Stenosis

269

Most common cause of NON-OBSTRUCTIVE or communicating hydrocephalus

Obliteration of the SUBARACHNOID CISTERNS (subarachnoid hemorrhage)

270

Foreshortened Occiput

Chiari Malformation

271

Prominent Occiput

Dandy-Walker Malformation

272

Partial or Complete absence of the CEREBELLAR VERMIS

Dandy-Walker Malformation

273

Most common seizure disorder in childhood

Febrile Seizure

274

5 minutes of seizure without regain of consciousness

Status Epilepticus

275

Petit Mal and Blank Stare

Absence Seizures

276

Parinaud's Syndrome

Pineal Tumors
Paralysis of upward gaze
Nystagmus (retraction or convergence)
Lid retractions

277

Neurofibromatosis 1

Von Recklinghausen Disease

278

Hallmark of neurofibromatosis 1

6 or more Café Au Lait Macules

279

Bilateral Acoustic Schwannoma (Aucostic Neuroma)

Neurofibromatosis 2

280

Spider Cell

Tuberous Sclerosis

281

Candle-Dripping

Tuberous Sclerosis

282

Serpentine or Railroad Tract Appearance

Sturge Weber

283

Most common chronic motor disability

Cerebral Palsy

284

Most common HEREDITARY NEUROMUSCULAR disorder in children

Duchenne Muscular Dystrophy

285

Gowers Sign

Duchenne Muscular Dystrophy

286

Xp21 Locus

Duchenne Muscular Dystrophy

287

Dystrophin Gene

Duchenne Muscular Dystrophy

288

Prominent forhead
Bitemporal hollowing
Anteverted nostrils
Prominent upper lip
Micrognathia

Miller-Dieker Syndrome

289

Milk Maid's Grip
Darting or Parting Tongue

Sydenham Chorea

290

Motor and Vocal Tic
Snorting
Coprolalia

Gilles de la Tourette Syndrome

291

Emaciation

Marasmus

292

Shrunken and wizened face

Marasmus

293

Hair is sparse and thin

Kwashirkor

294

Cause of Edematous PEM

Aflatoxin poisoning

295

Autosomal recessive metabolic disorder affecting the uptake of zinc

Acrodermatitis enteropathica

296

"Brandt Syndrome" / "Dandbolt-Cross Syndrome

Acrodermatitis enteropathica

297

Scorbutic Rosary

Scurvy

298

DISTAL ENDS OF LONG BONES with a ground glass appearance

Scurvy

299

Corkscrew Hair

Scurvy

300

Disease of growing bones which occurs in children only BEFORE FUSION OF THE EPIPHYSES

Rickets

301

Rachitic Rosary

Rickets

302

Harison's Groove

Rickets

303

Windswept Deformity

Rickets
(1 leg valgus other leg varus)

304

Most commonest respiratory problem of a premature infant

Hyaline Membrane Disease

305

Most common cyanotic heart disease surviving infancy

Tetralogy of Fallot

306

Blalock-Taussing Shunt

Tetralogy of Fallot

307

Pulmonary arteries arise from aorta

Truncus Arteriosus

308

Rostelli Repair

Truncus Arteriosus

309

Second most common cause is IDIOPATHIC

Primary Pulmonary Hypertension

310

Black Lung

Primary Pulmonary Hypertension

311

Coarse streaking granular pattern in both lung field

Primary Pulmonary Hypertension

312

Rib Notching

Coarctation of the Aorta

313

Most common in children / young adults between 5-15 years old

Rheumatic Fever

314

EGG on its side
EGG on a string

Transposition of Great Vessels

315

Box Shaped Heart

Ebstein's Anomaly

316

Brock's Procedure

Pulmonary Stenosis

317

Casal's Necklace

Pellagra
(dermatitis encircling the neck)

318

Premature closure of skull sutures

Craniosyntosis

319

Arylsulfatase A Deficiency

Metachromatic Leukodystrophy (MLD)