Bonnevie-Ullrich syndrome

  The syndrome is characterized by mental retardation, slow growth and lymphatic vascular dilatation.  Outline: The main features are mental retardation, slow growth and lymphatic duct dilatation edema, mostly seen in females, with a male to female ratio of about 4:1. It has been suggested that the syndrome may have some similarities with Turner and Albright.  Etiology: The etiology is not always clear, and it is a congenital hereditary disease. It is an irregular dominant inheritance with undetermined genetic factors.  Ocular features: 1. Excessive separation of the eyes, strabismus, small lid fissures, inner canthus, ptosis, small cryptophthalmos, eyelid defects, protruding eyeballs, ocular muscle paralysis, absence of lacrimal caruncle, and underdeveloped lacrimal glands.  2, corneal clouding, absence of pupil, congenital cataract.  3, optic nerve atrophy or hypoplasia, retinal pigment abnormalities.  Systemic features: 1. Oblique neck, facial palsy, skin folds visible between the mastoid process and scapular crest (pterygoid cervical skin).  2. Skeletal deformities, slow growth, limb deformities, elbow valgus, syndactyly (toe), deformed feet.  3, hands and feet with lymphatic dilatation edema, seen after birth, mostly in the age of 3 years to subside.  4.Hirsutism, neck edema, skin laxity, auricular deformity. Finger (toe) malnutrition.  5. Mental retardation, hypotonia, cranial nerve dysfunction, including the motoneurotic nerve, the gliding nerve, the abducens nerve, the facial nerve, the hypoglossal nerve, etc.  Differential diagnosis: This syndrome should be differentiated from Turner syndrome.  Treatment: Symptomatic treatment.