The autopsy showed brachydactyly, rhizomelia
, short neck, clinodactyly, microtia and claw hand, which had not been described in prenatal ultrasound.
(23) RCDP patients show distinct phenotypic characteristics such as severe growth failure and rhizomelia
. Genetic heterogeneity consisting of 14 CGs has been identified in PBDs by cell-fusion CG analysis using fibroblast cell lines derived from PBD patients (5), (20), (25)-(27) (Table 3), where the primary cause for PBDs was revealed to be the impaired biogenesis of peroxisomes.
Baby had dysmorphic facies (Microcephaly, prominent forehead, widely spaced eyes, upturned nose, depressed nasal bridge, full cheeks and micrognathia), congenital cataracts, rhizomelia, joint contractures and spasticity.
Infantogram showed multiple small calcifications noted at multiple epiphyseal regions suggestive of CDP and rhizomelia was noted in both upper and lower limbs.
The relentlessly progressive kyphoscoliosis that occurs during infancy causes an apparent equalization of trunk and limbs, hence the name "metatropic", derived from the Greek word metatropos, meaning "to change." Clinically, most children with metatropic dysplasia are short statured with rhizomelia
, prominent stiff joints, pectus carinatum, and severe kyphoscoliosis.
Occasionally seen are choanal atresia, cleft lip and palate, lung hypoplasia, severe rhizomelia
; scoliosis; congenital heart defect; vertebral anomalies, asplenia, renal agenesis, hypospadias., structural defects of brain development.