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

Abstract

We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.

• Authors: M Masuno, K Imaizumi, N Aida, G Nishimura, J Kimura, Y Kuroki
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 9 Issue 1 Pg. 59-60 (Jan 2000) ISSN: 0962-8827 [Print] England
• PMID: 10649800 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (pathology)
• Brain (abnormalities)
• Child, Preschool
• Ear (abnormalities)
• Eyelids (abnormalities)
• Female
• Humans
• Intellectual Disability (pathology)
• Macrostomia (pathology)
• Nose (abnormalities)