Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/12

Click to flip

12 Cards in this Set

  • Front
  • Back
Clinical Conradi-Hunermann Syndrome/ X0linked dominant chondrodysplasia punctata; Conradi-Hunermann-Happle syndrome
Synonym
X linked dominant chondrodysplasia punctata; Conradi Hunermann Happle syndrome
Inheritance
X linked dominant; Emopamil binging protein (EBP) gene on Xp11
Prenatal
Ultrasound evaluation of long bones
Incidence
Rare; usually lethal in males; reports of surviving males both with/without 47, XXY
Age at Presentation
Birth
Pathogenesis
Mutation in the EBP gene or 3P hydroxysteroid A I_A7_ isomerase leads to a defect in cholesterol biosynthesis and can explain skeletal phenotype
Clinical
Skin
lchthyosiform erythroderma in Blaschko's lines in infancy; resolves with follicular
atrophoderma and/or hyperpigmentation

Hair
Coarse, patchy alopecia

Eyes
Asymmetric focal cataracts

Musculoskeletal
Stippled epiphyses (punctate calcifications), asymmetric limb shortening, short
stature, scoliosis

Cranofacial
Frontal bossing, macrocephaly, flat nasal root, asymmetric

Central Nervous System
Mental retardation (rare)
D/Dx
Autosomal recessive rhizomelic chondrodysplasia punctata
X linked recessive chondrodysplasia punctata with steroid sulfatase deficiency
CHILD syndrome
Incontinentia pigmenti
Lab
Bone films
Neonatal skin biopsy may reveal calcium in the epidermis with von Kossa's stain
Peroxisomal function in cultured fibroblasts
Management
Referral to orthopedist, dermatologist, ophthalmologist
Examine first degree relatives
Prognosis
Ichthyosis and stippled epiphyses resolve after infancy; orthopedic complications
predominate with normal life span