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At a glance

It is a very rare syndrome characterized by asplenia, microgastria, hypoplastic arm, hand, and wrist or absent upper limb. Severe congenital heart defect (eg, truncus arteriosus) as well as pulmonary and kidney anomalies can be present. The treatment involves reconstructive gastric surgery (Hunt-Lawrence pouch) to help improve the child’s feeding abilities.

Synonyms

MLRD; Congenital Microgastria Limb Reduction Complex.

History

This medical condition was first described by HLF Robert in 1842.

Incidence

There are fewer than 60 cases that have been described in the medical literature.

Genetic inheritance

Genuine association, but no evidence of Mendelian inheritance. This condition is caused by an error that occurs during the embryonic development.

Clinical aspects

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.

Anesthetic considerations

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.

References

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Cunniff  C, Williamson-Kruse  L, Olney  AH: Congenital microgastria and limb reduction defects. Pediatrics 91:1192, 1993.  [PubMed: 8502528]
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Robert  HLF: Hemmungsbildung des Magens, Mangel der Milz und des Netzes. Arch Anat Physiol Wiss Med 57–60, 1842.
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Stewart  C, Stewart  M, Stewart  F: Microgastria-limb reduction anomaly with total amelia. Clin Dysmorphol 11:187, 2002.  [PubMed: 12072798]

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