Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. Issue 10 (October 1987)

• Record Type: Journal Article
• Authors: Ohdo, S; Madokoro, H; Sonoda, T; Takei, M; Yasuda, H; Mori, N
• Is Part Of: Journal of medical genetics. Volume 24:Issue 10(1987)
• Page Start: 609
• Page End: 612
• Publication Date: 1987-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.24.10.609
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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. The parents were second cousins. His karyotype on cultured blood lymphocytes was normal. Since the next fetus conceived by the mother was found on prenatal ultrasonography to have no limbs, abortion was induced. The face of the abortus closely resembled that of the proband. It is postulated that this malformation syndrome was due to the homozygous state of a rare autosomal recessive mutation.