Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

Ramer, J C; Lin, A E; Dobyns, W B; Winter, R; Aymé, S; Pallotta, R; Ladda, R L

Ramer, J C; Lin, A E; Dobyns, W B; Winter, R; Aymé, S; Pallotta, R; Ladda, R L.

Affiliation

Ramer JC; Department of Pediatrics, Pennsylvania State University Children's Hospital, Hershey, USA.

Am J Med Genet ; 57(3): 403-9, 1995 Jul 03.

Article in En | MEDLINE | ID: mdl-7545868

Subject(s)

Abnormalities, Multiple/genetics; Adolescent; Blepharoptosis/genetics; Child; Chromosomes, Human, Pair 2; Coloboma/genetics; Developmental Disabilities/genetics; Female; Frontal Bone/abnormalities; Gyrus Cinguli/abnormalities; Humans; Infant, Newborn; Intellectual Disability/genetics; Male; Orbit/abnormalities; Syndrome

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Database: MEDLINE Main subject: Abnormalities, Multiple Limits: Adolescent / Child / Female / Humans / Male / Newborn Language: En Year: 1995 Type: Article

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PubMed Links

Database: MEDLINE Main subject: Abnormalities, Multiple Limits: Adolescent / Child / Female / Humans / Male / Newborn Language: En Year: 1995 Type: Article