Fraser, syndrome
|
(Cryptophthalmos syndrome)
Very rare: approximately 2/1.106 live births. Polymalformative syndrome with autosomal recessive transmission the 2 key-signs of which are :
1) cryptophtalmia
2) complete or partial cutaneous syndactyly in the hands and feet.
Mutation of the FRAS1 gene on 4q21 (coding for a protein of the extracellular matrix); but the FREM2 (13q13) (Fraser type 2) and GRIP 1 (12q14) (Fraser type 3) genes are involved in some cases.
Other abnormalities found are:
- facial: microphthalmia or anophthalmia, cleft lip and/or palate, microtia or absence of ear, cleft nostrils
- in the upper airway: choanal atresia, micrognathia, laryngeal stenosis or web, laryngeal atresia, subglottic stenosis (20 % )
- urogenital: renal agenesis, urethral valves, hypospadias, microbladder, bicornuate uterus, imperforate hymen
- anorectal (45 %) malformation
- cardiac: ASD, VSD, coarctation.
Often lethal in case of laryngeal atresia, bilateral renal dysplasia or congenital diaphragmatic hernia.
To confirm a morphological diagnosis of Fraser syndrome, 3 major or 2 major and 2 minor criteria or 1 major and 3 minor criteria are necessary (table).
Major criteria |
Minor criteria |
- cryptophtalmos spectrum - syndactyly - urinary tract anomalies - ambiguous genitalia - laryngeal and tracheal anomalies - family history of Fraser syndrome |
- nasal anomalies - dysplastic ears - anorectal defects - cleft lip and/or palate - skull ossification defects - umbilical anomalies |
Anesthetic implications:
intubation can be difficult (small mouth opening, laryngeal or subglottic stenosis) or impossible (laryngeal atresia): echocardiography; check renal function.
References :
- Rose JB, Kettrick RG.
Subglottic stenosis complicating the anaesthetic management of a newborn with Fraser syndrome.Paediatr Anaesth 1993; 3: 383-5
- Jagtap SR, Malde AD, Pantvaidja SH.
Anaesthetic considerations in a patient with Fraser syndrome.
Anaesthesia 1995; 50: 39-41
- Dakins DM, Bingham RM.
Anaesthetic considerations in patients with Fraser syndrome.
Anaesthesia 1995; 50: 746
- Crowe S, Westbrook A, Bourke M, Lyons B, Russel J.
Impossible laryngeal intubation in an infant with fraser syndrome.
Pediatr Anesth 2004; 14: 276-8.
- Okumus N, Onal EE, Turkyilmaz C, Biri A, Gonul II, Unal S, Poyraz A, Atalay Y.
Resuscitation failure due to Fraser syndrome in a newborn undiagnosed in the prenatal period.
Resuscitation 2005; 65:221-3.
- Mathers JD, Breen TM, Smith JH.
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics.
Pediatr Anesth 2014; 24:1288-94
- Izadi F, Ahmadi A, Zobairy H et al.
Fraser syndrome with laryngeal web: report of two cases and a review of the literature.
Int J Pediatr Otorhinolaryng 2015; 79: 1959-62.
- Tham KM, Liew CWT, Khoo CEH , Wang H, Dela Cruz J, Lie MYK, Hee H.
Successful laryngoscope view using oversized C-MacVR D-blade in children presenting with difficult airway.
Anaesthesia and Intensive Care 2022 ; 50 : 396–9
Updated: October 2022