Frequent physical characteristics . . .
The following features, while not part of the core diagnostic manifestations,
are frequently present and add weight to the diagnosis:
- Eczema is present in more than half of children with Dubowitz syndrome,
the most common sites are the face and the inside folds (flexures) of
the knees and elbows. Severity varies and is often mild; however, one
child described by Grosse et al. (1971) [53] suffered from particularly
severe eczema "accompanied by intense itch [which] caused her to
excoriate large areas of her body, face and scalp, and extremities."
- The hair in early childhood is unusually fine, thin, and often scanty,
especially in the temple areas.
- The voice or cry is often described as high-pitched and soft, hoarse
or squeaky.
- Feeding difficulties are usually present, e.g., poor appetite, chronic
vomiting. These problems are thought to be due to gastroesophageal
reflux (GER) [11].
- Chronic diarrhea is common (especially in infancy), and chronic
constipation is a problem for many patients.
- Recurrent infections are common and usually involve the ears, urinary
tract, and upper respiratory tract. In fact, Dubowitz syndrome is
included in the World Health Organization (WHO) list of Primary
Immunodeficiency Diseases under category 10.4, "Immunodeficiency
with Generalized Growth Retardation."
- Inward curvature of the 5th fingers (clinodactyly) is often present.
- Another common characteristic is partial webbing of skin between the
2nd and 3rd toes (partial cutaneous syndactyly).
- High and narrow palate, cleft palate, or submucous cleft palate
(a separation of the bone beneath the skin or mucous membrane)
are common. Cleft uvula, which is a separation in the projection that
hangs from the palate in the back of the mouth, is occasionally present.
- Genital abnormalities are often present, especially in males, and
include undescended testes (cryptorchidism), inguinal hernia (groin),
and hypospadias (urethral opening located on undersurface of penis).
- Delayed bone age is common, and is confirmed through X-ray examination
of the growth plates (epiphyseal plates) located on the heads of the
long bones.
- Club foot, flat feet, or feet that are outwardly angled are seen.
- Various allergies are common.
