ORPHA: 2464;
Clunie and Mason (1962) described a seemingly distinct disorder in 3 brothers whose parents were first cousins. All had recurrent femoral and/or inguinal hernias and diverticula of the large and small bowel or urinary bladder. Two of the brothers had a marfanoid habitus. A sister had diverticula. Severe myopia, internal strabismus, and retinal detachment were present in the 3 brothers.
De Silva et al. (1996) described a brother and sister, offspring of consanguineous Sri Lankan parents, with marfanoid features (see 154700), visceral diverticula, and diaphragmatic eventration. There was no evidence of lens dislocation and the aortic root measurement was normal. The brother had a large bladder diverticulum. The eventration of the left hemidiaphragm developed between ages 4 years and 8 years. The sister had mitral valve prolapse. Both had inguinal hernia. The sister had malrotation and volvulus of the bowel producing bowel obstruction and multiple colonic diverticula. Gangrenous diverticula required surgery. By the age of 11, left diaphragmatic hernia developed.
Affected sibs of consanguineous, unaffected parents suggests autosomal recessive inheritance of this disorder (de Silva et al., 1996).
Clunie, G. J. A., Mason, J. M. Visceral diverticula and the Marfan syndrome. Brit. J. Surg. 50: 51-52, 1962. [PubMed: 13880014] [Full Text: https://doi.org/10.1002/bjs.18005021913]
de Silva, D. G. H., Gunawardena, T. P. J., Law, F. M. K. Unusual complications in siblings with marfanoid phenotype. Arch. Dis. Child. 75: 247-248, 1996. [PubMed: 8976669] [Full Text: https://doi.org/10.1136/adc.75.3.247]