Congenital microgastria‐limb reduction association: A case report and review of the literature

Abstract

We report a patient with phenotypic semblance to the congenital microgastria-limb reduction association (MLRD). Our patient presented with microgastria, bilateral upper limb anomalies, asplenia, solitary kidney, and mild micrognathia. In addition to the anomalies seen in our patient, MLRD has been associated with respiratory, cardiovascular, and central nervous system anomalies. MLRD is thought to arise from a developmental field defect during embryonic weeks five and six; however, no genetic cause has been elucidated. Along with our patient presentation, we review the literature to further our understanding of the MLRD phenotype spectrum.

History and highlights of the teratological collection in theNarrenturm, Vienna (Austria)

“…Sporadic microgastria–limb reduction defects association (MRDA) (OMIM 156810) could pose a plausible differential diagnosis. MRDA is characterized by often asymmetric limb defects including phocomelia and oligodactyly, shrunken abdomen (due to microgastria, hypo‐/a‐splenia, and renal dysplasia/agenesis) as well as by anophthalmia and cryptorchidism (Shah et al, 2020).…”

Follow-up study of three cases of congenital microgastria

“…Congenital microgastria figures in a rudimental stomach, with a tubular or saccular shape. [1][2][3][10][11][12][13][14][15] The reservoir capacity is null or minimal, as well as the secretory function. The underlying etiopathogenesis is related to an embryological intestinal developmental defect.…”

“…14 In fact, isolated microgastria is reported as an exceptionally rare event, for which we report one case. 5,[12][13][14][15] As opposed, syndromes that present microgastria along with other defects are the microstrip-limb reduction defect, the VACTERL complex, and the Pierre-Robin sequence. [12][13][14][15] Prenatal diagnosis is usually accomplished by lack of stomach visualization; Though, although none of our patients were known with microgastria before birth.…”

“…5,[12][13][14][15] As opposed, syndromes that present microgastria along with other defects are the microstrip-limb reduction defect, the VACTERL complex, and the Pierre-Robin sequence. [12][13][14][15] Prenatal diagnosis is usually accomplished by lack of stomach visualization; Though, although none of our patients were known with microgastria before birth. Presenting symptoms vary amongst the severe GORD-like spectrum such as feeding intolerance, post-prandial vomiting, regurgitation, recurrent aspirations and respiratory symptoms, failure to thrive, and, in most severe cases, death.…”

“…The Hunt-Lawrence (HL) pouch and Total Gastric Dissociation (TGD) are the most frequently described surgical techniques. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] HL technique accomplishes gastric augmentation by the creation of a jejunal pouch which is anastomosed to the stomach as a Roux-en-Y. 3,5 A proximal portion of the jejunum is transected and bent into a "U shape".…”