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Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Large beaked nose

合計: 2

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PMID (PMCID)
9332654	MALE	Adult
	Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.
	Anderson CE, Wallerstein R, Zamerowski ST, Witzleben C, Hoyer JR, Gibas L, Jackson LG. Am J Med Genet. 1997;72(3):281-5.
	Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition.
1903499	FEMALE	Child
	[Seckel's syndrome].
	Corona MF, Lazzini F, Arioni C, Bertani R, de Toni T. Minerva Pediatr. 1991;43(1-2):45-7.
	The patient, admitted to our clinic for short stature, presented some signs of Seckel syndrome: microcephaly, a "bird headed" profile with receding chin and forehead and large beaked nose.