New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities

American Journal of Medical Genetics

Volumn 107, Issue 3, 2002, Pages 237-242

  Khalifa, M M ^a   Cappon, S ^a   Soboleski, D ^a   Armstrong, D ^b  

^a KINGSTON GENERAL HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Autosomal recessive; Cleft palate; Coloboma of iris and retina; Genital anomalies; Psychomotor retardation; Skeletal anomalies; X linked recessive inheritance

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRACHYCEPHALY; CASE REPORT; CHROMOSOME ABERRATION; CLEFT PALATE; COLOBOMA; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; DIAGNOSTIC IMAGING; GENITAL MALFORMATION; HUMAN; HYPERTELORISM; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SKELETON MALFORMATION; WEBBED NECK; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CLEFT PALATE; COLOBOMA; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; GENITALIA, MALE; HUMANS; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; SKULL; SYNDROME;

EID: 0037154067     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10136     Document Type: Article

References (15)

1. A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis
2. Iris coloboma, ptosis, hypertelorism, and mental retardation: A new syndrome
3. Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations
4. Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies
5. An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation
6. Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome)
7. Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: A specific association
8. Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians
9. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?
10. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
11. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?
12. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
13. Short stature, mental retardation, eye anomalies, and cleft lip/palate
14. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?
15. Midline facial defects with ocular colobomata