Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.

Peach (Prunus persica (L.) Batsch) is a popular fruit consumed by people worldwide, owing to its pleasant flavor and high mineral nutrient content. A few plants from the genus Prunus, such as Prunus yedoensis, Prunus cerasus, and Prunus serotina have shown vasorelaxant and vasodilatory effects, to date, no study has investigated the vasorelaxation effects of the P. persica branch extract (PPE). The vasorelaxant effect of PPE was endothelium-dependent, and it was related to the NO-sGC-cGMP, vascular prostacyclin, and muscarinic receptor transduction pathway. K+ channels, such as the BKCa, KV, and KATP channels, were partially associated with PPE-induced vasorelaxation. PPE was effective in relaxing serotonin (5-HT)- or angiotensin II-induced contraction; furthermore, PPE attenuated Ca2+-induced vasoconstriction by IP3 receptors in the SR membrane, but its vasorelaxant effect was not associated with the influx of extracellular Ca2+ via receptor-operative Ca2+ channels or voltage-dependent Ca2+ channels. Recognizing the rising use of functional foods for hypertension treatment, our findings imply that PPE may be a natural antihypertensive agent.

The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA). Through the Finnish Skeletal Dysplasia Register, we identified 3 additional patients with identical genotype. Two of them also showed unusually mild growth failure (height SDS -1.6 at 14 years and -3.0 at 12 years, respectively). Three of the 4 patients suffered from recurrent infections; 1 developed progressive bronchiectasis and another died from aggressive lymphoma. Our findings expand the phenotypic variability in CHH to include normal childhood height. The milder growth retardation related to this particular genotype was not associated with less severe extra-skeletal manifestations, emphasizing the need for careful follow-up also in CHH patients with mild-skeletal manifestations.