Dubowitz, syndrome

[MIM 223 370]

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