Very rare syndrome characterized by splenic and
intestinal anomalies associated with hypoplastic or absent upper limb.
Severe congenital heart defect (e.g., truncus arteriosus) and pulmonary
anomalies can be present.
MLRD; Congenital Microgastria Limb Reduction Complex.
First described by Robert in 1842.
Fewer than 20 cases have been
described. Genuine association, but no evidence of mendelian inheritance.
Features involve gastrointestinal (microgastria, asplenia,
splenic hypoplasia, splenogonadal fusion, failure to thrive, gastric ulcer,
malrotation of the gut, congenital megacolon), limbs (absent thumbs, radius,
ulna, arm with single digit at the shoulder), and genitourinary (dysplastic or ectopic
kidney). Torticollis, plagiocephaly, frontal bossing, paresis of ocular
muscles, microphthalmos or anophthalmia, mental retardation,
arrhinencephaly, fused thalami, agenesis of corpus callosum, cranial nerve
anomalies, lissencephaly, absent clavicle, complex heart disease (Atrial septal
truncus arteriosus), imperforate anus, absent lobe lung, and segmentation
defect can occur.
High rate of anesthetic implications.
Major considerations are dictated by the preoperative evaluation of cardiac and
respiratory anomalies. Aspiration risk may require rapid-sequence induction.
Both central/peripheral venous and arterial access can be difficult. Careful
intraoperative positioning is needed. Preoperative assessment, anesthetic
management, and prophylactic antibiotics should be considered in presence of
Cunniff C, Williamson-Kruse L, Olney AH: Congenital microgastria and limb
reduction defects. Pediatrics
Stewart C, Stewart M, Stewart F: Microgastria-limb reduction anomaly with
total amelia. Clin Dysmorphol