[MIM 180,700, 268,310, 616,331, 616,894]
(Robinow-Silverman-Smith syndrome, Robinow-type dwarfism, aceral dysostosis with facial and genital abnormalities, Fetal Face syndrome)
Incidence: about 1/500,000. Autosomal recessive transmission of a mutation of the MMR2 gene (9q22) or autosomal dominant transmission of the WNT5A gene (3p14.3) (10 % of cases). The recessive form is more severe.
Association of short stature with:
- 'fetal' facies: hypertelorism with pseudo-exophthalmia due to the hypoplasia of the lower eyelid, midface hypoplasia, frontal bossing, upturned nose with a broad base, gum hypertrophy, inverted V-shapped upper lip, micrognathia; sometimes cleft lip and/or palate, choanal atresia
- mesomelic shortening of the limbs with brachydactyly and malposition of the thumb,
- genital hypoplasia: vaginal atresia, hematocolpos, micropenis,
- vertebral abnormalities (hemivertebrae, cyphoscoliosis, chest deformity with costal fusions)
- and, in 15 % of cases, a congenital heart disease: pulmonary stenosis or atresia, tetralogy of Fallot, coarctation of the aorta.
- sometimes renal dysplasia, hydronephrosis.
Anesthetic implications:
risk of difficult intubation. Preoperatively: echocardiography, renal function, x-ray of the spine if a neuraxial block is planned.
References :
- MacDonald I, Dearlove OR.
Anaesthesia and Robinow syndromee.
Anaesthesia 1995 ; 12 :1097.
- Sleesman JB, Tobias JD.
Anaesthetic implications of the child with Robinow syndrome.
Paediatr Anaesth 2003; 13: 629-32.
- Lirk P, rieder J, Schuerholz A, Keller C.
Anaesthetic implications of Robinow syndrome.
Paediatr Anaesth 2003; 13: 725-7.
- Weksler N, Schwartz A, Klein M, Rozentsveig V et al.
Laryngeal mask airway and the Robinow syndrome.
Minerva anestesiologica 2006 ; 72 :81-3.
- Depal V, Patel N, Singh A, Kumar A.
Robinow syndrome : an anesthetic challenge and review of the literature.
Acta Anaesth Belg 2020 ; 71 :141-3.
Updated: February 2022