BACKGROUND:
Spondylo-epi-metaphyseal Dysplasias [SEMD] are a rare variant of osteo-chondrodysplasia characterized by severe vertebral and epi-metaphyseal abnormalities leading to severe short stature.
Isidor et.al in 2013 published a novel variant of SEMD with no identifiable mutation in the genes previously associated with SEMD. They presented with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Xrays showed platyspondyly and severe epimetaphyseal changes. Later in 2019, Le Caignac et.al demonstrated a mutation in the RPL13 gene in these 2 cases.
We herein present a case of this rare variant of Severe Spondylo-epi-metaphyseal Dysplasia in a preterm neonate.
CASE CHARACTERISTICS:
A female preterm neonate, born to a non consanguinous marriage of 3 years . Antenatal scans at 30+2weeks were suggestive of rhizomelia and polyhydramnios. Baby was born via spontaneous vaginal delivery, Cried immediately after birth, Weight, Length, Occipitofrontal circumference were - 1500g, 37cm and 28cm respectively.
Prominent forehead, Flattened nasal bridge. Short neck, protuberant abdomen were noted. Limbs showed Proximal limb shortening and Joint hyperlaxity. Other systems were normal.
Routine Blood Investigations, Ultrasonography, 2D Echo were found to be normal. Xrays showed - Proximal limb shortening, with irregular and abnormal vertebrae, pelvis, Epi-metaphyses. Radiographs of the mother were found to be normal. MRI reported as pachygyria cortical malformation.
Whole exome sequencing was performed and a mutation in the RPL13 gene was detected.
Baby's growth is being serially monitored and found to be <-3SD as per both WHO Child Growth Standard charts as well as Achondroplasia Clinical Charts.
MESSAGE:
Thisreport will represent the first case of The Isidor Toutain variant of Spondyloepimetaphyseal Dysplasia diagnosed in the neonatal age group.
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