Microcephaly with chorioretinal dysplasia: Characteristic facial features [3]

American Journal of Medical Genetics

Volumn 95, Issue 5, 2000, Pages 513-515

  Abdel Salam, Ghada M H ^a   Czeizel, Andrew E ^a,d   Vogt, Gábor ^b   Imre, Laszlo ^c  

^a FOUNDATION FOR THE COMMUNITY CONTROL OF HEREDITARY DISEASES   (Hungary)

^b MAV Hospital   (Hungary)

^c SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^d NONE   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; FACIES; HUMAN; JAW; LETTER; MALE; MICROCEPHALY; NOSE; PRIORITY JOURNAL; PROGNATHIA; PROMINENT EAR; RETINA MALFORMATION; SCHOOL CHILD;

ADULT; CHILD; CHILD, PRESCHOOL; CHOROID; EPILEPSY; FACE; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; MUSCLE SPASTICITY; RETINA;

EID: 0034684731     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001218)95:5<513::AID-AJMG19>3.0.CO;2-J     Document Type: Letter

References (10)

1. Ocular abnormalities of true microcephaly
2. Microcephaly with chorioretinal degeneration
3. Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases
4. On the nosology of the primary true microcephaly, chorioretinal dysplasia, lymphoedema association
5. Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible charecteristic facial appearence
6. Chorioretinopathy with hereditatry microcephaly
7. The syndrome of retinal pigmentary degeneration, microcephaly and severe mental retardation (Mirhossini-Holmes-Walton syndrome): Report of two patients
8. Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedema
9. Chorioretinal dysplasia-microcephalymental retardation syndrome: Report of an American family
10. Microcephaly-lymphedema syndrome: Report of a family with short stature as additional manifestation