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A male child in late infancy, born at 38 weeks of gestation in a hospital to healthy parents in their late 20s (first pregnancy, non-consanguineous marriage) with an uneventful perinatal history, was referred to our tertiary care centre for evaluation of short stature and global developmental delay. On examination, the child exhibited dysmorphic features including frontal bossing, flat nasal bridge, high-arched palate, prominent maxilla, long philtrum, thin upper lip and hypertelorism, along with rhizomelic shortening of upper arms and thighs ( figure 1C), growth parameters below the third percentile (head circumference 38 cm, weight 4.5 kg, length 40 cm). The child’s anthropometric assessment at 11 months revealed severe stunting with a length-for-age Z-score of −14.57, underweight status indicated by a weight-for-age Z-score of −7.07 and microcephaly with a head circumference-for-age Z-score of −3.3. The child exhibited global developmental delay, with partial neck holding and inability to roll over or sit with support; he produced cooing sounds, recognised his mother and smiled socially in response to her. There was no relevant family history. Ocular examination revealed bilateral lens opacities consistent with congenital cataracts; cataract extraction was done at 8 months of age. No prior workup for the underlying condition had been performed despite surgeries at 8 months of age. The brainstem evoked response audiometry test for hearing assessment yielded normal results. Dermatological findings such as ichthyosis or alopecia were absent in this case. Based on the clinical history, the differential diagnoses considered were PEX7-related rhizomelic chondrodysplasia punctata, other forms of rhizomelic chondrodysplasia punctata, Zellweger spectrum disorder, X-linked chondrodysplasia punctata 1 and metabolic disorders such as mucopolysaccharidoses types I, II and VII.