Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Tetra-amelia

A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.

Hypoplastic lacrimal duct

Total: 2

(per page)

PMID (PMCID)
3681906	MIXED_SAMPLE	Infant, Newborn
	Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.
	Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N. J Med Genet. 1987;24(10):609-12.
	Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.
3681906	MIXED_SAMPLE	Infant, Newborn
	Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation.
	Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N. J Med Genet. 1987;24(10):609-12.
	A male child with tetra-amelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening towards the exterior, prominent and bulbous nose, large downturned mouth, high narrow palate, bilateral preauricular pits, sacral dimple, bilateral undescended testes, and developmental retardation is reported.