Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

Excerpt

A newborn male born to a non-consanguineous Mexican couple was evaluated for lethargy and elevated C3 acylcarnitine (18 μmol/L, normal <5) on newborn screening. Plasma homocysteine, methionine, and methylmalonic acid (MMA) were 272.4 (normal 5–15), 5 μmol/L (normal 10–60 nmol/L), and 85 μmol/L (normal <0.8 μmol/L), respectively. Molecular analysis of MMACHC revealed compound heterozygosity for a novel, maternally-inherited deletion encompassing exons 2–4 and a c.615C>G (p.Y205X) mutation, confirming the cobalamin C defect (cblC; OMIM 277400). Chromosomal microarray was normal. Antenatal history was uneventful without maternal substance abuse. Asymmetry of the anterior chest wall was noted, with severe hypoplasia of the right pectoralis major muscle and an inverted right nipple. …