The characteristic facies of the following may resemble that of Downs syndrome:
Correct Answer: Zellweger syndrome
Description: (C) Zellweger syndrome# ZELLWEGER SYNDROME: Children demonstrate facial dysmorphology with a prominent forehead, large anterior fontanellae, epicanthal folds, micrognathia, high arched palate, and deformed ear lobes.> Characteristic Zellweger syndrome facies may resemble that of Downs syndrome.> Other features include profound hypotonia, hepatic dysfunction, hepatomegaly, retinal degeneration, sensorineural hearing loss, renal cysts and calcific stippling of the epiphyses.> Peroxismol biogenesis disorders (PBDs) include Zellweger syndrome, Neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IR), & Rhizomelic chondrodysplasia punctata (RCP).> Zellweger syndrome, NALD, and IRD represent a spectrum of disroders with similar and overlapping clinical features.
Category:
Pediatrics
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