Microgastria-Limb Reduction Defects Association

Clinical Features

Robert (1842) reported the case of a girl with microgastria, hypoplastic left forearm, hand, and wrist, and asplenia. A similar pattern of malformations was reported by Schulz and Niemann (1971), Aintablian et al. (1987), and Lueder et al. (1989).

Cunniff et al. (1993) described 3 unrelated patients with the combination of congenital microgastria and limb reduction defects. One of the patients was a member of a same-sex twin pair. She had bilateral absence of the thumbs. During surgery for correction of the microgastria, asplenia was detected. DNA markers indicated that the twins had a greater than 99% chance of being monozygous. The second infant had unilateral absence of the radius and ulna, with 3 digits and contralateral absence of the entire arm with a single digit extending from the shoulder. The kidneys were bilaterally dysplastic and the spleen hypoplastic in association with microgastria. The third infant was evaluated at the age of 1 month for a limb reduction defect and ectopic kidney. Failure to thrive was found to be caused by microgastria and a Hunt-Lawrence pouch was created. Chromosome analysis, including studies for increased chromosomal breakage, was normal. There was no recurrence in sibs or parental consanguinity to suggest autosomal recessive inheritance; this possibility is also rendered unlikely by the occurrence in only 1 of monozygotic twins.

Verloes et al. (1995) reported a 24-week-old fetus with arhinencephaly, agenesis of the corpus callosum, hypothalamic hamartoblastoma, absence of the right thumb, hypoplastic left thumb, hypoplastic lungs, intestinal malrotation, microgastria, asplenia, 'inverted' horseshoe kidney, blind vagina, and absence of internal genitalia. Prosencephalic defects did not contradict the diagnosis of 'microgastria-limb reduction' complex (Meinecke et al., 1992), but the presence of hypothalamic hamartoblastoma, characteristic of Pallister-Hall syndrome-1 (146510), was unusual.