(Petty-Laxova-Wiedemann syndrome, Fontaine-Farriaux syndrome)

Very rare. Could be a laminopathy, a condition caused by a mutation in the gene coding for laminin A/C (LMNA). Long connected to other progeroid syndromes (premature aging) as the Hutchinson-Gilford progeria of  the Wiedemann-Rautenstrauch syndrome (or neonatal progeria).

Clinical presentation:

-        intrauterine and postnatal growth retardation but no developmental delay

-        thin skin with reduction of subcutaneous fat

-        very large fontanelles with synostosis of the coronal suture: deformation of the skull with a very wide forehead

-        odd pattern of growth of hairs and eyebrows

-        vascular malformation(s) (wide angiomas) on the scalp

-        midface hypoplasia, sometimes micrognathia

-        hypoplasia of the distal ends of the fingers

-         low set ears

-        hypoplasia of the external genitalia (hypospadias)

-        fragile intestinal wall ?

-        sometimes: cardiac malformation

Fountain-Farriaux syndrome presents a similar phenotype but includes major malformations of the central nervous system and developmental retardation.

Anesthetic implications:

echocardiography, difficul venous access, fragile skin (positioning !), risk of difficult intubation, caution during the installation of a gastric tube (one report of perforation).

References : 

-         Pickard A, Chen J. 
Petty syndrome : implications for anesthesia. 
Pediatr Anesth 2011; 21: 1274-6

Updated: October 2018