Ablepharon-macrostomia syndrome: First report of familial occurrence

American Journal of Medical Genetics

Volumn 94, Issue 4, 2000, Pages 281-283

  Ferraz, Victor E F ^a   Melo, Débora G ^a   Hansing, Susanne E ^a   Cruz, Antonio A V ^a   Pina Neto, João M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Ablepharon macrostomia syndrome; Autosomal dominant inheritance; Familial occurrence; Partial lid agenesis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; EAR MALFORMATION; EYELID DISEASE; FACE MALFORMATION; GENITAL MALFORMATION; HUMAN; MACROSTOMIA; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DISEASE; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; CASE REPORT; CHILD, PRESCHOOL; EYELIDS; FEMALE; GENES, DOMINANT; GENITALIA, FEMALE; GROWTH DISORDERS; HAIR; HUMAN; INFANT; INFANT, NEWBORN; MACROSTOMIA; MALE; NUCLEAR FAMILY; PREGNANCY; SYNDROME;

EID: 0034597368     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S     Document Type: Article

References (13)

1. Cryptophthalmos in two families from Bahia, Brazil
2. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation
3. Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis: A new syndrome?
4. Congenital shortening of the anterior lamella of all eyelids: The so-called ablepharon macrostomia syndrome
5. Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation
6. Autosomal dominant inheritance of Barber-Say syndrome
7. Ablepharon macrostomia syndrome
8. Ablepharon macrostomia syndrome: Report of a case and clinical delineation
9. Ablepharon macrostomia syndrome
10. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): Report of a new case
11. Barber-Say syndrome: Report of a new case
12. Ablepharon macrostomia syndrome with associated cutis laxia: Possible localization to 18q
13. Ablepharon macrostomia syndrome