[MIM 248 370, 608 612]

Extremely rare. Transmission: autosomal recessive of a mutation of the LMNA gene or the gene ZMPSTE24. This last gene encodes for a protein involved in the synthesis of lamin A. Other mutations of lamin A/C can cause a lipodystrophy, the  Emery-Dreifuss muscular dystrophy, non obstructive cardiomyopaties, Charcot-Marie-Tooth neuropathy or progeria.

Clinical findings:

-         postnatal growth retardation: late closure of the fontanels

-         craniofacial anomalies: mandibular hypoplasia

-         skeletal abnormalities: hypoplasia of the clavicles (drooping shoulders); acroosteolysis; contractured joints

-         a thin skin and lipoatrophy with premature aging similar to the progeria aspect

-         dappled pigmentation of the skin

One distinguishes type A where lipoatrophy predominates at the extremities and type B where it is more widespread.

Anesthetic implications: 

difficult intubation; risk of hypothermia (lipoatrophy)

References : 

-         Hoeffel J-C, Mainard L, Chastagner P, Hoeffel CC. 
Mandibulo-acral dysplasia. 
Skelethal Radiol 2000; 29: 668-71.

-         Herd RS, Sprung J, Weingarten TN. 
Primary osteolysis syndromes: beware of difficult airway. 
Pediatr Anesth 2015; 25: 727-37.

Updated: July 2019