Dubowitz, syndrome
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Polymalformative autosomal recessive syndrome of unknown origin.
Association of:
- intrauterine and post-natal growth delay
- facial dysmorphism: microcephaly, triangular face, high sloping forehead, retrognathism, ptosis, blepharophimosis, epicanthus, dental malocclusion, sometimes submucosal or complete cleft palate; sparse hair, eyebrows and eyelashes
- mental retardation of variable importance
- mild behavioral disorders: attention disorders, excessive shyness
- muscle hypotonia
- eczema of the cheeks and the flexion areas
- brachy-clinodactyly of the 5th finger,
- urogenital malformations: hypospadias
- cardiac malformations: ASD, VSD
Sometimes: immune deficit predisposing to allergies, infections and some cancers (aplastic anemia, leukemia, neuroblastoma).
A few cases of vertebral malformations: sacral anomalies, spina bifida occulta, sacrococcygeal dimple, cervical abnormalities (subluxation of C1, dysplasia of the occipital condyles), Klippel-Feil syndrome....
Anesthetic implications:
lack of cooperation. Check the full blood count, echocardiography and the mobility of the cervical spine. Risk of difficult intubation
References :
- Tsukahara M, Opitz JM.
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.
Am J Med Genet 1996; 63: 277-89
- Kee Lee M, Seock Lee Y.
Anesthesia of a patient with Dubowitz syndrome : a case report.
Korean J Anesthesiol 2010 ; 58 : 495-9.
- Beer M, Fiedler F.
Anaesthesia and orphan disease: Dubowitz syndrome.
Eur J Anaesthesiol 2019; 36: 620-2
Updated: July 2019