Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: Another observation

Clinical Dysmorphology

Volumn 9, Issue 1, 2000, Pages 59-60

  Masuno, Mitsuo ^a   Imaizumi, Kiyoshi ^a   Aida, Noriko ^a   Nishimura, Gen ^a   Kimura, Junko ^a   Kuroki, Yoshikazu ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Frontonasal dysplasia; Macroblepharon; Macrostomia; Mental retardation; Midline defects

Indexed keywords

ARTICLE; BRACHYCEPHALY; BRAIN MALFORMATION; CASE REPORT; COLOBOMA; DYSPLASIA; EAR MALFORMATION; ECTROPION; FEMALE; HUMAN; HYPERTELORISM; MACROSTOMIA; MALFORMATION SYNDROME; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0033957470     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009010-00012     Document Type: Article

References (3)

1. Barber N, Say B, Bell RF, Merveille OC (1982). Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation. Syndrome Ident 8:6-9.
2. Guion-Almeida ML, Richieri-Costa A (1999). Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol 8:1-4.
3. Richieri-Costa A, Montagnoli L, Kamiya TY (1989). Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. Am J Med Genet 33:121-124.