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.

Hypotonia

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

合計: 1

（表示件数）

PMID (PMCID)
9286460	MALE	Infant
	Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
	Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E. Am J Med Genet. 1997;71(4):479-85.
	A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel syndrome or microcephalic primordial dwarfism I.