PEDBASE.org - The Pediatric Database - Detailed information of DUBOWITZ SYNDROME

DUBOWITZ SYNDROME

DEFINITION:

A rare disorder characterized by peculiar facies, infantile eczema, short stature, microcephaly, and congenital pancytopenia.

EPIDEMIOLOGY:

incidence: rare (40 cases reported worldwide)
age of onset:
- ? newborn (anemia)
risk factors:
- familial - autosomal recessive
  - chrom. #: ?
  - gene: ?
- M = F

PATHOGENESIS:

1. Background

etiology is unknown but is considered to be one of at least 4 disorders characterized by congenital pancytopenia
- other congenital pancytopenias:
  - Dyskeratosis Congenita
  - Fanconi Anemia
  - Shwachman-Diamond Syndrome

CLINICAL FEATURES:

1. Anemia

aplastic anemia in 10% of patients
pallor, lethargy

2. Dysmorphic Features

1. Facies

microcephaly with small facies
sparse hair
shallow, supraorbital ridge
prominent/dysplastic ears
broad nose
micrognathia

2. Ocular

blepharophimosis (short palpebral fissures)
epicanthal folds
telecanthus
variable ptosis

3. Musculoskeletal

low birth weight/IUGR
growth retardation/short stature/failure to thrive

4. Cutaneous

eczema on face and flexural areas
in 50% of cases by 2-4 years of life

5. Neurological/Behavioural

mild -> severe mental retardation
hyperactive, short attention span, stubborn, shy
speech and language delay
high-pitched, hoarse voice or cry

6. Gastrointestinal

poor feeding with vomiting
chronic diarrhea +/- rectal prolapse
carious teeth

3. Complications

1. Neoplasms

lymphoma
leukemia - ALL
neuroblastoma

INVESTIGATIONS:

1. Serum

macrocytic anemia, increased HbF, low reticulocytes
thrombocytopenia, leukopenia

2. Bone Marrow

hypoplastic

3. Chromosomal Breakage Analysis

normal

MANAGEMENT:

1. Supportive

no treatment for disorder
surgery for ptosis, genetic counselling, special education

Pediatric Database - DUBOWITZ SYNDROME

Pediatric Organization - Pedbase [at] Gmail.com