PEDBASE.org - The Pediatric Database - Detailed information of ASPHYXIATING THORACIC DYSTROPHY

ASPHYXIATING THORACIC DYSTROPHY

DEFINITION:

A potentially lethal type of congenital dwarfism characterized by typical skeletal dysplasias (micromelia, narrowed thorax) with respiratory and renal manifestations.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- newborn
risk factors:
- familial - autosomal recessive
  - chrom.#: ?
  - gene: ?
- M = F

CLINICAL FEATURES:

1. Musculoskeletal Manifestations

1. Limbs

micromelia
ulnar polydactyly of hands and feet

2. Thorax

narrow

2. Respiratory Manifestations

hypoplastic lungs -> neonatal asphyxia, recurrent respiratory infections

3. Renal Manifestations

hematuria
progressive renal failure (may be present by age 2)

4. Others

1. Ophthalmologic

retinal degeneration

2. Gastrointestinal

intestinal malabsorption

INVESTIGATIONS:

1. Imaging Studies

1. Skeletal X-Rays

limbs - as above
thorax - ribs short length, anterior ends bulbous and irregular

2. Renal

urinalysis - hematuria
biopsy - secondary tubulointerstitial (hereditary)
- cystic tubular dysplasia (Potters Type IV)
- +/- glomerular sclerosis

MANAGEMENT:

1. Supportive

respiratory distress, recurrent respiratory infections
renal failure - dialysis and transplantation

2. Prognosis

may survive to adulthood if survive respiratory and renal complications
short stature (dwarf)

Pediatric Database - ASPHYXIATING THORACIC DYSTROPHY

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