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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 defect, 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 cardiopathy.

Cunniff C, Williamson-Kruse L, Olney AH: Congenital microgastria and limb reduction defects. Pediatrics 91:1192, 1993.  [PubMed: 8502528]
Stewart C, Stewart M, Stewart F: Microgastria-limb reduction anomaly with total amelia. Clin Dysmorphol 11:187, 2002.  [PubMed: 12219431]

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