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Zellweger syndrome

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 1

(per page)

PMID (PMCID)
12784304	MIXED_SAMPLE	Child
	A new autosomal recessive syndrome with Zellweger-like manifestations.
	Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T. Am J Med Genet A. 2003;119A(3):352-5.
	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and micrognathia.