Roberts syndrome
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(pseudothalidomide, SC-phocomelia syndrome)
Very rare. Autosomal recessive mutation of the WNT3 gene (on 17q21).
Diagnosis by examination of the chromosomes in metaphase: premature separation of centromeric heterochromatin.
Association of:
- intrauterine growth restriction:
- limbs malformation (more severe in upper limbs): tetraphocomelia or symmetrical amelia; malformations of the hands or feet.
- craniofacial abnormalities: cleft lip with or without cleft palate, micrognathia, microbrachycephaly, hypertelorism, downwards slanting of palpebral fissures, shallow orbits with prominent eyes.
Frequent mental retardation. Sometimes: pulmonary hypoplasia, cardiac abnormalities, renal polycystic disease, urogenital malformations, Moyamoya disease.
Often lethal in the neonatal period or early infancy.
Anesthetic implications:
hypoxemia, diffi cult venous access, difficult intubation; also difficult monitoring (saturation, BP). A case of reliable measurement using a neonatal cuff placed around the penis has been reported.
References :
Updated: October 2018