Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)

American Journal of Medical Genetics

Volumn 62, Issue 3, 1996, Pages 227-229

  Seller, Mary J ^a   Davis, Teresa B ^a   Fear, Claudine N ^a   Flinter, Frances A ^a   Ellis, Ian ^a,c   Gibson, A G ^b  

^a GUY S HOSPITAL   (United Kingdom)

^b KENT AND CANTERBURY HOSPITAL   (United Kingdom)

^c ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

anophthalmia; eye; lung; malformations

Indexed keywords

ANOPHTHALMIA; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CLINICAL FEATURE; FEMALE; FETUS; HUMAN; KARYOTYPING; LUNG HYPOPLASIA; MALE; MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL;

ABORTION, SPONTANEOUS; ADULT; ANOPHTHALMOS; FEMALE; HUMANS; INFANT, NEWBORN; LUNG; PREGNANCY;

EID: 0029920805     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<227::AID-AJMG5>3.0.CO;2-Q     Document Type: Article

References (15)

1. Boylan P (1977): Familial pulmonary hypoplasia. Irish J Med Sci 146:179-180.
2. Carrière C (1975): "Étude Clinique et Cytogénétique d'un Enfant Trisomique Pour le Segment p23.3→pter du Chromosome 2. Thèse, Lyon.
3. Fraser FC (1994): Personal communication in McKusick VA (ed): "Mendelian Inheritance in Man," 11th Edition. Johns Hopkins University Press.
4. Fryns JP, Kleczkowska A, Moerman F, Van den Berghe K, Van den Berghe H (1986): The fetal phenotype in 2p trisomy. Ann Genet 29:269-271.
5. Heathcote JG, Sholdice J, Walton JC, Willis NR, Sergovich FR (1991): Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Can J Ophthalmol 26:35-43.
6. Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, Hollex A, Schinzel A (1995): Trisomy 2p: Analysis of unusual phenotypic findings. Am J Med Genet 55:229-236.
7. Monteleone PL, Blair JD, Graviss ER, Chen S, Salvador A, Grzegocki JA, Monteleone JA (1981): De novo partial 2p duplication with postmortem description. Am J Med Genet 10:55-64.
8. Östör AG, Stillwell R, Fortune DW (1978): Bilateral pulmonary agenesis. Pathology 10:243-248.
9. Say B, Carpenter NJ, Giacoia G, Jegathesan S (1980): Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+). J Med Genet 17:477-478.
10. Schober PH, Müller WD, Behmel A, Fritsch G, Beitzke A (1983): Lungenagenesie bei partieller Trisomie 2p und 21q. Klin Padiatr 195:291-293.
11. Spear GS, Yetur P, Beyerlein RA (1987): Bilateral pulmonary agenesis and microphthalmia. Am J Med Genet (Suppl) 3:379-382.
12. Toriello HV, Bauserman SC (1985): Bilateral pulmonary agenesis: Association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. Am J Med Genet 21:93-103.
13. Toriello HV, Higgins JV, Jones AS, Radecki LL (1985): Pulmonary and diaphragmatic agenesis: Report of affected sibs. Am J Med Genet 21:87-92.
14. Weaver RG, Rao N, Thomas IT, Pettenati MJ (1991): De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts. Am J Med Genet 40:509-512.
15. Yokoyama Y, Narahara K, Tsuji K, Ninomiya S, Seino Y (1992): Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. Hum Genet 90:177-178.